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Gene: Tlr5 MGI:1858171

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
toll-like receptor 5
Synonyms:
N/A

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 Tlr5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Tlr5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... ORPHA:71529
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Reactive hypoglycemia, Episod... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Episodic hyperhidrosis, Hypoglycemic seizures, Fasting hypoglycemia, E... ORPHA:276575
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hypoglycemic seizures, Fast... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidros... ORPHA:276556
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia OMIM:608320
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Feeding difficulties, Glucose intolerance, Hypotension, Attention defi... ORPHA:369873
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... ORPHA:79084
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Go... OMIM:610947
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin resis... ORPHA:411593
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Anti-thyroid peroxidase antibody positivity, Hyperhidrosis, I... ORPHA:525731
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent ear infections, Recurrent pneumonia, Recurrent upper respirator... OMIM:614962
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 By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia, Obesity, Overgrowth, Hepatic steatosis OMIM:620195
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Helicobacter pylori infection, Small fo... ORPHA:275555
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infect... OMIM:300635
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Elev... OMIM:619386
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Flexion contracture, Hepatic steatosis, Hepat... OMIM:613327
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... ORPHA:79083
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellit... ORPHA:528
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Autoimmunity, Insulin resistance, Insulin... ORPHA:79086
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, ... ORPHA:37042
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... OMIM:151660
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... OMIM:616022
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Agita... ORPHA:276608
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Trimethylaminuria
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Diabetes mellitus, Cholangitis, Ov... ORPHA:69663
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Secondary Short Bowel Syndrome
Villous atrophy, Low plasma citrulline, Abnormal blood ion concentration, Sepsis, Vomiting, Abnor... ORPHA:95427
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... ORPHA:2298
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Nausea and vomiting, Anorexia, Abdominal pain, Splenomegaly, ... ORPHA:79312
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir... ORPHA:263455
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity, Tall stature OMIM:618406
Overlap Myositis
Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat... ORPHA:206572
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Acute... OMIM:608594
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... OMIM:613501
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Acute Lung Injury
Shock, Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatiti... ORPHA:178320
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... OMIM:614700
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ... OMIM:614372
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:2348
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
X-Linked Agammaglobulinemia
Sinusitis, Abnormal lung morphology, Sepsis, Glossoptosis, Conjunctivitis, Hypocalcemia, Neutrope... ORPHA:47
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Sepsis,... ORPHA:70578
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Acute... OMIM:269700
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... OMIM:618805
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... OMIM:308240
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Diabetes mellitus, Recurrent infections, Progressive lo... OMIM:608709
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Recurrent viral infections, Colitis, Neutropenia, Infectious enceph... OMIM:209920
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Apnea,... OMIM:619048
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Recurrent respirator... OMIM:607616
Acquired Partial Lipodystrophy
Lipoatrophy, Autoimmunity, Insulin resistance, Lymphocytosis, Hepatic steatosis ORPHA:79087
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... ORPHA:77296
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Feeding difficulties, Intermittent diarrhea, Hypertr... OMIM:620270
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... OMIM:618048
Pgm3-Cdg
Rheumatoid factor positive, Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased... ORPHA:443811
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Type 1 Diabetes Mellitus
Diabetes mellitus, Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, ... OMIM:222100
Autosomal Agammaglobulinemia
Sinusitis, Sepsis, Conjunctivitis, High palate, Cough, Neutropenia, Chronic otitis media, Meningi... ORPHA:33110
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Idiopathic Achalasia
Bronchitis, Cough, Wheezing, Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decre... ORPHA:930
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... ORPHA:47612
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Apnea, Poor appetite, Feeding difficulties in i... OMIM:606054
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Legionnaires Disease
Anorexia, Abnormal lung morphology, Sepsis, Cough, Infectious encephalitis, Hyponatremia, Abdomin... ORPHA:549
Postinfectious Vasculitis
Rheumatoid factor positive, Anorexia, Elevated circulating C-reactive protein concentration, Seve... ORPHA:48435
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Recurre... OMIM:620282
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, ... OMIM:616050
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... ORPHA:247585
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Fee... ORPHA:26792
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Whipple Disease
Myositis, Myocardial infarction, Anorexia, Uveitis, Cough, Hypothyroidism, Infectious encephaliti... ORPHA:3452
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hyp... ORPHA:79259
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo... ORPHA:264580
Bloom Syndrome
Recurrent herpes, Bronchitis, Poor appetite, Adipose tissue loss, Severe varicella zoster infecti... ORPHA:125
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia... OMIM:620085
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hypoglycemia, Cerebellar hemorrhage, ... OMIM:251000
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... ORPHA:36238
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction OMIM:108725
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity OMIM:612227
14Q11.2 Microduplication Syndrome
Aggressive behavior, Feeding difficulties in infancy, Polyphagia, Obesity, Attention deficit hype... ORPHA:261229
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Hepatom... ORPHA:280365
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... ORPHA:183675
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,... OMIM:616740
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... ORPHA:98813
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gam... ORPHA:563
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Maternally-Inherited Diabetes And Deafness
Malabsorption, Congestive heart failure, Hypertension, Constipation, Type II diabetes mellitus, A... ORPHA:225
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Severe varicella zoster infection, Recurrent... ORPHA:397596
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, B... OMIM:607594
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Recur... OMIM:619573
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating cholesterol con... ORPHA:399
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Vomiting, Abnormal int... OMIM:606528
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Recurrent viral infections, Periodontitis, Neutropenia, Recurrent ear infections... ORPHA:486
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Hypercalcemia, Abnormal dental enamel morph... ORPHA:251004
Necrotizing Enterocolitis
Shock, Hyponatremia, Neonatal sepsis, Small for gestational age, Apnea, Abdominal distention, Per... ORPHA:391673
Narcolepsy Type 1
Syncope, Obesity ORPHA:2073
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... OMIM:615381
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Elevated circu... ORPHA:90051
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Hypoalbuminemia, Vomit... OMIM:620357
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Minimal change glomerulonephritis, Decreased proportion of... ORPHA:1830
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple... OMIM:603552
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym... ORPHA:158057
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Recurrent infections,... OMIM:615285
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal... ORPHA:100025
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Autoimmunity, Large for gestational age, Increased circulating free fatt... ORPHA:293964
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Feeding difficulties, High pal... ORPHA:254531
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Poor suck, Feeding diffi... OMIM:615547
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Autoimmunity, Splenomegaly, Diarrhea, Recurrent pneumonia... OMIM:240500
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... OMIM:232220
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... OMIM:304790
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:c... OMIM:121300
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic failure, Elevat... OMIM:617872
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent respiratory infections, Neonatal respiratory distress, Inguinal hernia, Recurrent upper... OMIM:300209
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... ORPHA:911
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... OMIM:209950
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me... OMIM:613179
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Leukocytosi... ORPHA:90065
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ul... OMIM:617638
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med... ORPHA:169160
Dietary Iron Overload Disease
Hepatic fibrosis, Elevated hepatic iron concentration, Hepatic steatosis, Hepatomegaly, Chronic i... ORPHA:139507
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent viral infections, Increased circulating IgG level, Disseminated molluscum contagiosum, ... OMIM:243700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... OMIM:618986
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated ... OMIM:212140
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
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
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Adenocarcinoma Of The Esophagus
Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ob... ORPHA:99976
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hepa... OMIM:308230
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... OMIM:606367
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemi... ORPHA:171
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia, Secretory diarrhea, Hypertension, ... OMIM:616069
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... OMIM:614868
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... ORPHA:31825
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Lipodystrophy, Autoimmunity, Paraproteinemia, Elevated ... ORPHA:329918
Prader-Willi Syndrome Due To Imprinting Mutation
Feeding difficulties in infancy, Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa... ORPHA:2137
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Autoimmunity, Aut... OMIM:614470
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... OMIM:300400
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Angina pectoris, Acu... ORPHA:412
Immunodeficiency 23
Rheumatoid factor positive, Recurrent staphylococcal infections, Severe varicella zoster infectio... OMIM:615816
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Protein-lo... OMIM:615863
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Abdominal pain, Diarrhea, Recurrent upper respiratory tract infections, Hyperammone... OMIM:620137
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Gaisböck Syndrome
Myocardial infarction, Increased circulating renin level, Cholecystitis, Overweight, Hypovolemia,... ORPHA:90041
Immunodeficiency 7
Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Spleno... OMIM:615387
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Increased circulating IgM level, Recurrent bacterial infections... OMIM:605258
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... OMIM:226990
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, High palate, Aggressive behavior, Overfriendliness OMIM:618010
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Nasogastric tube feeding in infancy, Xeros... ORPHA:739
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Feeding difficulties in infancy, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Sepsis, Paralytic il... ORPHA:810
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Thrombocytopenia OMIM:189800
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... OMIM:604250
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Neonatal a... ORPHA:79237
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hypoalbuminemia, Hepati... ORPHA:79319
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Skin rash, Autoimmunity, Recurrent viral infections, Recurrent m... ORPHA:275
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... ORPHA:391487
Systemic Lupus Erythematosus 17
Lymphopenia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Antinuclear antib... OMIM:301080
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis ORPHA:313906
Aspergillosis
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chro... ORPHA:1163
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Feeding difficulties in infancy, Obesity, Self... OMIM:613670
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain OMIM:118830
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... ORPHA:65682
Bronchial Neuroendocrine Tumor
Anorexia, Poor appetite, Nonproductive cough, Hepatomegaly, Tricuspid regurgitation, Bowel urgenc... ORPHA:97287
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Feeding di... OMIM:606407
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto... OMIM:615688
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Acne, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189427
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Apnea, Neutropenia, Bronchiectasis, Hyperammonemia, Resp... OMIM:618253
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Cog4-Cdg
Elevated hepatic transaminase, Neonatal sepsis, Fatal liver failure in infancy, Failure to thrive... ORPHA:263501
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... ORPHA:98793
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
6Q16 Microdeletion Syndrome
Poor suck, Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jau... ORPHA:75234
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash... OMIM:617591
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Pyloric sten... ORPHA:96184
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Acne, Dorsocervical fat pad, Adrenal hyperplasia, Increased body weight, Hyper... OMIM:615830
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B... OMIM:615767
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... ORPHA:177904
Immunodeficiency 70
Furuncle, Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... ORPHA:98754
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... ORPHA:177901
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Rheumatoid factor positive, Lymphadenitis, Hemolytic anemia, Abscess, Perianal abscess, Hepatospl... OMIM:618935
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Vomiting, Decreased adipose tissue around n... OMIM:606721
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Lymphopenia, Autoimmuni... ORPHA:277
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Feeding difficulties in infancy, Fasting hyperinsulinemia, Hepatic necrosi... ORPHA:71212
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension OMIM:617068
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Takayasu Arteritis
Increased inflammatory response, Myocardial infarction, Anorexia, Vasculitis, Weight loss, Hyperh... ORPHA:3287
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Velopharyngeal insufficien... OMIM:182290
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Abdominal pain, Recurrent pancreatitis, Type II diabetes melli... OMIM:619290
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... ORPHA:900
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp... ORPHA:26790
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Autoimmunity, Elevated circulating creatinine concentration, Synov... ORPHA:567544
Familial Chylomicronemia Syndrome
Nausea and vomiting, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embol... ORPHA:444490
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hyp... ORPHA:79644
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... OMIM:229050
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Celiac disease, D... OMIM:615952
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Familial Cervical Artery Dissection
Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Anorexia, Tachypnea, Leukopenia, Recurrent hypoglycemia, Hepatomegaly, Leukocytosis, Dilat... ORPHA:20
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... ORPHA:26793
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Antineutrophil antib... OMIM:301078
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Obesity, Bronchiolitis, Hypogonadism, Rec... OMIM:615993
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... OMIM:616100
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... OMIM:608898
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Xerostomia, Increased body weight, Gastroesophageal reflux, Compulsive behav... ORPHA:398069
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Kleine-Levin Syndrome
Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexu... ORPHA:33543
Neonatal Alloimmune Neutropenia
Pneumonia, Maternal diabetes, Severe infection, Jaundice, Sepsis, Neutropenia in presence of anti... ORPHA:464370
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Nausea and vomiting, Thrombocytopenia, Sepsis, Hyperammonemia... ORPHA:289916
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatic steatosis, Pericarditis, Hepatomegaly, Acute pancreatitis,... OMIM:619487
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Prader-Willi syndrome (Type 1)
Feeding difficulties in infancy, Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Feeding difficulties in infancy, Truncal obesity, Hypogonadism DECIPHER:53
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Odynophagia, U... ORPHA:99826
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... OMIM:616433
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis, Cardiorespiratory ... ORPHA:188
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,... ORPHA:3261
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Sim1-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Premature pubarche, Hypogonadotropic hypogonadism, Precocious p... ORPHA:398079
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Vomiting, Hepatomegaly, Elevated circulating ... ORPHA:26791
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Hyperinsulinemic Hypoglycemia, Familial, 4
Feeding difficulties, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Anti-t... OMIM:274300
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Thrombocytosis, Anorexia, Diarrhea, Tachypnea, Leukocytosis, Hyperamm... ORPHA:134
Hemophagocytic Syndrome Associated With An Infection
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Abnormal cytokine signaling, Severe... ORPHA:158048
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k... OMIM:201475
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Anti-GAD65 antibody, Hyperinsulinemi... OMIM:616033
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... ORPHA:811
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Meningitis, Leukocy... ORPHA:292
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Diarrhea, Arthritis... OMIM:601457
Rhabdoid Tumor
Nausea and vomiting, Hypercalcemia, Poor appetite, Abdominal pain, Thrombocytopenia, Respiratory ... ORPHA:69077
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Melorheostosis With Osteopoikilosis
Hypertension, Multiple lipomas ORPHA:1879
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Hypohidrosis, Truncal obesity,... ORPHA:633
X-Linked Acrogigantism
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... ORPHA:300373
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Acne, Biliary tract abnormality, Obesity, Respiratory insufficiency, Type II dia... ORPHA:3191
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, High, narrow palate, Abnormal pancreas morphology,... ORPHA:2849
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hepa... ORPHA:398124
Heme Oxygenase 1 Deficiency
Hepatomegaly, Increased circulating interleukin 6 concentration, Hemolytic anemia, Epistaxis, Ele... OMIM:614034
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:601859
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Anti-thyroid peroxidase antibody positivity, Hypothyroidism, ... ORPHA:228426
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... OMIM:619705
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abdominal distention, Hyperlipidemia, ... ORPHA:369
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Respiratory failure, Gastroesophageal reflux, Decreased liver function,... ORPHA:70472
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... OMIM:620321
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Neonatal insuli... ORPHA:1667
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... OMIM:300148
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... ORPHA:183
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity... OMIM:617718
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Feeding difficulties in i... OMIM:619013
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Hyperhidrosis, Tubulointerstitial nephritis, Glucose int... ORPHA:358
Idiopathic Bronchiectasis
Cachexia, Myocardial infarction, Respiratory tract infection, Dyspnea, Wheezing, Crackles, Produc... ORPHA:60033
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Myocardial infarction, Hyperhomocystinemia, Disproportionate tall stature, High ... OMIM:236200
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency... ORPHA:27
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... ORPHA:293987
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pai... ORPHA:67
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hepatic steatosis, Hyper... ORPHA:247598
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Lymphopenia, Persistent CMV viremia, Autoimmune thr... OMIM:617514
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Thyroid hypoplasia, Goiter, Feedi... ORPHA:90674
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Gout,... OMIM:232200
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration, Nephritis OMIM:161900
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... ORPHA:98853
Craniopharyngioma
Nausea and vomiting, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Myocardial infarcti... ORPHA:54595
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Elevated circulati... OMIM:619632
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h... ORPHA:35878
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Respi... ORPHA:2686
Epidermolysis Bullosa Acquisita
Atypical scarring of skin, Inflammation of the large intestine, Diabetes mellitus, Abdominal pain ORPHA:46487
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Bronchitis, Abnormality of the spleen, Lymphadenitis,... ORPHA:2552
Graft Versus Host Disease
Myositis, Fasciitis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Dupuytren ... ORPHA:39812
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... ORPHA:98855
Q Fever
Respiratory distress, Rheumatoid factor positive, Anorexia, Abnormal left ventricular function, A... ORPHA:781
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph... ORPHA:275761
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Flexion contracture, Elevated circulating creati... OMIM:616733
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Eczema, Obesity ORPHA:3055
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Abnormal jejunum morphology, Unusua... ORPHA:449280
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Hip contracture, Necrotizing enterocolitis, Inguinal hernia, Elevated circulating creatine kinase... OMIM:616809
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... ORPHA:98863
Pseudohypoparathyroidism Type 1A
Abdominal symptom, Decreased response to growth hormone stimulation test, Reduced circulating pro... ORPHA:79443
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Tachypnea, Hyperhomocystinemia, Feedi... OMIM:614857
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Toxic Epidermal Necrolysis
Acute hepatic failure, Respiratory distress, Intestinal perforation, Sepsis, Conjunctivitis, Coug... ORPHA:537
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis, Abdominal symptom, Hypergonadotropic hypogonadism, Decreased r... ORPHA:79444
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Autoimmunity, Aggressive behavior, Hypothyroid... ORPHA:449291
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo... OMIM:619752
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracran... ORPHA:3260
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Overweight, Dilated cardiomyopathy, Renovascular hypertension, Type II diab... ORPHA:401923
Riboflavin Transporter Deficiency
Cachexia, Aggressive behavior, Respiratory insufficiency, Hypertension, Hypogonadism, Dysphagia, ... ORPHA:97229
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Cle... ORPHA:141152
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ... ORPHA:767
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Wagro Syndrome
Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations ORPHA:488650
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... OMIM:150550
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cardiac arrest, Elevated circulating c... OMIM:212138
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Abdominal distention, Hyperinsulinemia, Cholestasis, Rec... OMIM:246200
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... OMIM:540000
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypopl... OMIM:557000
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Dyspnea, Insulin resistance, Diarrhea, Eleva... ORPHA:230
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Adiposis Dolorosa
Abdominal distention, Constipation, Obesity, Painful subcutaneous lipomas OMIM:103200
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Abnormal T cell morphology, Tubulointerstitial... ORPHA:330015
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... OMIM:102700
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Recurrent ear infections, Gastroesophageal reflux, ... ORPHA:300536
Luscan-Lumish Syndrome
Aggressive behavior, Obesity, Overgrowth, Recurrent otitis media, Polyphagia OMIM:616831
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Congenital portosystemic venous shunt, Hypergalactosemia, Decr... OMIM:601466
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegal... OMIM:612541
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Bronchiolitis, Reduction of neutrophil motility, Periodontitis, Compulsi... OMIM:266265
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
48,Xxyy Syndrome
Recurrent respiratory infections, Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal denta... ORPHA:10
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... OMIM:615559
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Congestive heart failure, S... OMIM:617303
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Stevens-Johnson Syndrome
Acute hepatic failure, Myocardial infarction, Abnormality of neutrophils, Sepsis, Conjunctivitis,... ORPHA:36426
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Cach Syndrome
Flexion contracture, Nonketotic hyperglycinemia, Hepatosplenomegaly, Feeding difficulties, Optic ... ORPHA:135
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin... ORPHA:542643
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Feeding difficulties, Hy... ORPHA:2169
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
H Syndrome
Hypertriglyceridemia, Psoriasiform dermatitis, Lipodystrophy, Diabetes mellitus, Malabsorption, M... ORPHA:168569
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Increased adipose tissue, Congestive heart failure, Dyspnea, Dilated ca... ORPHA:1349
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Lymphadenopathy, ... ORPHA:42642
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Insulin resistance, Flexion contracture, Recurrent pneumonia, Elbow fl... OMIM:214150
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,... ORPHA:439232
Angelman Syndrome
Abnormality of the gastrointestinal tract, Hyperactivity, Precocious puberty in females, Aggressi... ORPHA:72
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Hypoglycemia, Spider hemangioma, Chronic pancreatitis, Cyclic neutropen... OMIM:232240
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Chronic ... OMIM:601495
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute ... ORPHA:90038
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypo... ORPHA:73272
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... OMIM:301045
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Tegumentary leishmaniasis susceptibility, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Respiratory insufficiency, Dysphagia OMIM:618230
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Elevated circulating C-reactive protein concentration, BCGosis, Hepatomega... OMIM:619644
Mirage Syndrome
Adrenal hypoplasia, Sepsis, Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Aspirat... OMIM:617053
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf... ORPHA:2088
Werner Syndrome
Telangiectasia of the skin, Lipodystrophy, Myocardial infarction, Lipoatrophy, Congestive heart f... ORPHA:902
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Autoimmunity, Subarachnoid hemorrhage, Extrapulmonary tuberculosis, Severe inf... ORPHA:494424
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... ORPHA:98908
Primary Membranoproliferative Glomerulonephritis
Hypertension, C3 nephritic factor positivity, Hypoalbuminemia, Myocardial infarction ORPHA:54370
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, High palate, Fasting hypoglycemia, Hypothyroidism, Precocious puberty, ... ORPHA:769
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent tonsillitis, Systemic lu... OMIM:613779
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Autoimmunity, Splenomegaly, Recurrent upper respiratory trac... OMIM:616005
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Griscelli Syndrome, Type 2
Hemophagocytosis, Reduced delayed hypersensitivity, Recurrent bacterial infections, Hepatosplenom... OMIM:607624
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypoalbuminemia, Meningitis, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hep... OMIM:603553
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Rigid Spine Syndrome
Hip contracture, Pneumonia, Cardiac conduction abnormality, Abnormality on pulmonary function tes... ORPHA:97244
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Constipation, Polyphagia,... ORPHA:228402
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... ORPHA:905
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Vomiting, Hepatic steatosis, Bifid uvula, Hep... OMIM:614921
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... OMIM:618963
Mitochondrial Neurogastrointestinal Encephalomyopathy
Poor appetite, Gastrointestinal dysmotility, Vomiting, Macrovesicular hepatic steatosis, Gastroes... ORPHA:298
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated creatine ... ORPHA:99901
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... OMIM:251880
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Prader-Willi Syndrome
Hypoventilation, Recurrent respiratory infections, Failure to thrive in infancy, Decreased respon... OMIM:176270
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Productive cough, Chronic infecti... ORPHA:520
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Aca... ORPHA:71
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Multiple joint contractures, Small for g... ORPHA:2959
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Lymphadenitis, Inflammation of the large inte... OMIM:615895
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... ORPHA:79124
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Anorexia, Elevated circulating C-reactive protein ... ORPHA:49041
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Feeding d... ORPHA:819
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... ORPHA:727
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Ileal ul... OMIM:616744
Schimke Immunoosseous Dysplasia
Pancytopenia, Transient ischemic attack, Small for gestational age, Abnormal immunoglobulin level... OMIM:242900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Recurrent skin infections, Decreased serum iron, Overweight, Repetitive compul... ORPHA:391372
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Hepatic failure, Diarrhea, Hypoalbuminemia, Hepatic fibrosis, Cirr... OMIM:602579
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat... ORPHA:79126
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Anemia OMIM:603278
Placental Insufficiency
Antiphospholipid antibody positivity, Small for gestational age, Insulin resistance, Abnormal lun... ORPHA:439167
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Increased proportion autoreactive unresponsive CD21-/low B cells... OMIM:618534
Sneddon Syndrome
Antiphospholipid antibody positivity, Cerebral hemorrhage, Decreased circulating total IgM, Hyper... OMIM:182410
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Elevated ... ORPHA:565612
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory distress, Tachycardia, Respiratory failur... ORPHA:264675
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Sepsis, Hashimoto thyroiditis,... ORPHA:199299
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Intellectual Developmental Disorder, X-Linked 91
High palate, Obesity OMIM:300577
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Hypoglycemic seizures, Vomi... ORPHA:361
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Neutropenia, Hypoxemia, Cellulitis, Abnormal pl... ORPHA:238459
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... ORPHA:209902
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Stiff Skin Syndrome
Hypertension, Abnormal circulating lipid concentration, Lipoatrophy, Type II diabetes mellitus ORPHA:2833
Vici Syndrome
Elevated circulating creatine kinase concentration, Recurrent viral infections, Leukopenia, T lym... OMIM:242840
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Sepsis, Vomiting, High palate, Hepatic steatosis, Accessory spl... OMIM:619418
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... OMIM:618398
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... OMIM:614602
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Paroxysmal Hemicrania
Nausea and vomiting, Restless legs, Diabetes mellitus, Hypertension, Rhinitis, Rhinorrhea ORPHA:157835
Cernunnos-Xlf Deficiency
Autoimmunity, Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level,... ORPHA:169079
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Recurrent respiratory infections, Large for gestational age, Respiratory insufficie... ORPHA:2432
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Sple... OMIM:603554
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... OMIM:264470
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... OMIM:614172
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc... ORPHA:480520
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... OMIM:614576
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hepatic steatosis, Hyperactivity, Precocious puberty, Hyperlipidemia, Obesi... ORPHA:254346
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Achalasia, Thrombocytopenia OMIM:615750
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Hyperhidrosis,... ORPHA:99827
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Monosomy 13Q34
Hypercalcemia, Epistaxis, Insulin resistance, Obesity, Hematochezia, Pulmonic stenosis, Hepatic s... ORPHA:96168
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Congestive heart failure, Thrombocytopenia, Recurrent pneumonia, Flexion co... OMIM:616271
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... ORPHA:340
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Eczema, Aggressive behavior, Hypothyroidism, Obesity, Feeding difficulties, Self-i... OMIM:600430
Mehmo Syndrome
Diabetes mellitus, Agitation, Obesity ORPHA:85282
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:614582
Mercury Poisoning
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Episodic abdominal pain, Hypertension, Hypo... ORPHA:330021
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... ORPHA:293978
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, El... ORPHA:79284
Cebalid Syndrome
High palate, Polyphagia, Congenital diaphragmatic hernia, Feeding difficulties OMIM:618774
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Bulimia, Obesity, Mitral regurgitation, Pulmonary arterial hype... OMIM:614651
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Obesity, High palate, Lipoma, Chronic otitis media ORPHA:480907
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Larg... ORPHA:45452
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Pelger-Huet Anomaly
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... OMIM:169400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Nausea, Protein avoidance, Increased circulating ferritin concentrat... OMIM:222700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Infant Botulism
Hyponatremia, Cardiac arrest, Anorexia, Bowel incontinence, Respiratory insufficiency due to musc... ORPHA:178478
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Central hypoventilation, Neoplasm... ORPHA:251992
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Decreased circulating total IgM, Neutropenia, Enamel hypoplasia... ORPHA:2643
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Familial Multiple Lipomatosis
Lipodystrophy, Functional intestinal obstruction, Increased adipose tissue, Insulin resistance, H... ORPHA:199276
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Iga Nephropathy, Susceptibility To, 2
Hypertension, Nephritis OMIM:613944
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Shortened QT interva... ORPHA:143
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Polymyositis
Elevated circulating creatine kinase concentration, Myocardial infarction, Anorexia, Gastroesopha... ORPHA:732
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Feeding difficulties, Bloody diarrhea, Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steat... OMIM:615119
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Bloody diarrhea, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Hemolytic a... OMIM:615846
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Vo... ORPHA:85450
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Incre... OMIM:608836
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Hypocomplementemic Urticarial Vasculitis
Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Hepatomegaly, Abdominal pain, Restrictive ... ORPHA:36412
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Abnorma... ORPHA:70591
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... OMIM:618234
Cystic Hamartoma Of Lung And Kidney
Hypertension, Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Skin rash, Megalob... OMIM:277380
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:64
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Elevated carcinoma antigen 125 level, Elevated cir... ORPHA:370348
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic ... OMIM:214900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... ORPHA:98907
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension OMIM:105200
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Anhidrosis, Hemolytic anemia, Pneumonia, Autoimmunity, Recurrent viral infections, ... ORPHA:169090
Brucellosis
Liver abscess, Rheumatoid factor positive, Anorexia, Elevated circulating C-reactive protein conc... ORPHA:1304
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper... ORPHA:136
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... OMIM:219080
11Q22.2Q22.3 Microdeletion Syndrome
High, narrow palate, Obesity, Feeding difficulties, Attention deficit hyperactivity disorder, Com... ORPHA:444002
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... ORPHA:90068
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... ORPHA:228123
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune he... OMIM:618495
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hypertension, Hypertrophic cardiomy... ORPHA:1345
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Respiratory distress, Hypoglycemia, Epi... ORPHA:348
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis ORPHA:172
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... ORPHA:91355
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Bardet-Biedl Syndrome 1
Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, In... OMIM:209900
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attentio... ORPHA:210548
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Minimal change glomerulonephritis, Respiratory tract in... ORPHA:567548
Potocki-Shaffer Syndrome
Hypertension, Hypothyroidism, Anemia, Delayed puberty ORPHA:52022
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Feeding difficulties in infancy, Flexion contracture, Hypoalbuminemia, Hepatic f... OMIM:212065
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... ORPHA:131
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Decreased response to growth hormone stimul... ORPHA:1855
Bardet-Biedl Syndrome 2
Diabetes mellitus, Dilated cardiomyopathy, Hypogonadism, Obesity OMIM:615981
Refractory Anemia
Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate... ORPHA:98826
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... OMIM:614069
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Tularemia
Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Meningi... ORPHA:3392
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Decreased re... OMIM:307200
Simple Cryoglobulinemia
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Abnor... ORPHA:91139
Syndromic Diarrhea
Villous atrophy, Bloody diarrhea, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypoplasia... ORPHA:84064
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesity, Feeding difficu... OMIM:619737
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... ORPHA:3077
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... ORPHA:906
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti... ORPHA:431361
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Autoimmunity, Dyspnea, Anti... ORPHA:99867
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Small for gestational age, Neutropenia, Hyperammonemia, Recurrent ... OMIM:615471
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Nausea, Congestive heart fail... ORPHA:94080
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... ORPHA:562639
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Hyperhidrosis, Vom... ORPHA:466677
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Esophageal stricture, Bronchiec... OMIM:615468
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Hypogonadism, Type II diabetes mellitus, Dysphagia, Type I diabetes mellitus, Dela... ORPHA:412057
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Hypertension, Anemia ORPHA:1192
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma... ORPHA:75233
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H... OMIM:219700
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Lymphadenop... OMIM:618852
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Poor appetite, Heart block, Tachypnea, Increas... ORPHA:542323
Mirizzi Syndrome
Elevated hepatic transaminase, Tachycardia, Abdominal colic, Anorexia, Nausea, Abdominal pain, Pa... ORPHA:521219
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Hyperactivity, Congenital diaphragmatic hernia, Obesity, Atopic... ORPHA:412035
Maple Syrup Urine Disease
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Feeding difficulties ... OMIM:248600
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, ... ORPHA:35858
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Vomiting OMIM:230350
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Sepsis, Hyperhidrosis, Vo... ORPHA:94093
Liddle Syndrome
Hypertension, Hypokalemia, Cerebral ischemia, Constipation, Arrhythmia ORPHA:526
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hypothyroidism, Pneumothorax, Feeding difficulties, Cardiomyopathy... ORPHA:445038
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Inguinal hernia, Diabetes mellitus, Insulin resistance, Dilated cardiomyopathy, Trun... OMIM:616541
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Sepsis, Abnormal left ventricular function, Leukopenia, V... OMIM:619991
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... ORPHA:31205
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Adnp Syndrome
Respiratory distress, Inguinal hernia, Recurrent urinary tract infections, Aggressive behavior, O... ORPHA:404448
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Behçet Disease
Myositis, Myocardial infarction, Anorexia, Pulmonary embolism, Infectious encephalitis, Meningiti... ORPHA:117
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Hypoalbuminemia, Hypocalcemia, Vomiting, Cough, Gastroesophageal reflux, High palate, ... OMIM:613658
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... OMIM:602347
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperp... ORPHA:247691
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Jaundice, Increased body weight, Res... ORPHA:890
Porphyria Variegata
Hyponatremia, Elevated hepatic transaminase, Tachycardia, Scarring, Abdominal pain, Abnormal circ... ORPHA:79473
Linear Iga Dermatosis
Inflammation of the large intestine, Autoimmunity, Epistaxis ORPHA:46488
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia, Neutropenia OMIM:616949
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Anorexia, Adrenal... ORPHA:95409
Tako-Tsubo Cardiomyopathy
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... ORPHA:66529
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Sepsis, I... OMIM:301000
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia OMIM:245900
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
48,Xxxy Syndrome
Recurrent respiratory infections, Inguinal hernia, Abnormal dental enamel morphology, Pulmonary e... ORPHA:96263
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Shortened QT interva... ORPHA:99880
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Reactive hy... OMIM:600955
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein co... OMIM:617099
Tetanus
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Bowel inco... ORPHA:3299
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties ORPHA:79238
Chung-Jansen Syndrome
Impulsivity, Aggressive behavior, Obesity, Feeding difficulties, High palate, Attention deficit h... OMIM:617991
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Feeding difficulties i... ORPHA:746
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Antiphospholipid antibody positivity ORPHA:820
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism, Hypohidrosis ORPHA:181
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Myocardial... ORPHA:99889
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... OMIM:618459
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Polyphagia, Pineal cy... OMIM:615873
Microlissencephaly
Pneumonia ORPHA:1083
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Failure to thr... ORPHA:1572
Intellectual Developmental Disorder, Autosomal Dominant 1
Recurrent ear infections, Aggressive behavior, Feeding difficulties, Self-injurious behavior, Mac... OMIM:156200
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Feeding difficulties in infancy, Recurrent upper respiratory tract infections, Incre... ORPHA:589905
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Raynaud p... OMIM:607944
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Hyperactivity, Neonatal respiratory distress, First degree atrioventricular ... ORPHA:589821
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Nausea and vomiting, Elevated circulating creatine kinase concentration, Dyspnea, Achilles tendon... OMIM:615418
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosi... OMIM:617052
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Poikiloderma With Neutropenia
Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronchopul... OMIM:604173
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... OMIM:301068
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... ORPHA:1414
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Gastric varix, Cirrhosis OMIM:613490
Estrogen Resistance Syndrome
Acne, Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperin... ORPHA:785
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Congestive heart failure, Emphysema, Pulmonary carcinoid tumor... ORPHA:363618
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Short Syndrome
Inguinal hernia, Lipoatrophy, Small for gestational age, Lipodystrophy, Insulin resistance, Absen... OMIM:269880
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Thrombo... OMIM:603585
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:369929
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Pneumonia, Bronchitis, Ventricular tachycardia, Atrioventric... OMIM:601005
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Recurrent infections, Hyperuricemia, Neutrop... OMIM:617056
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Anorexia, Leukopenia, Lymphocytosis, Neutr... ORPHA:50918
Omenn Syndrome
Hepatomegaly, Pneumonia, Eosinophilia, Autoimmunity, Splenomegaly, Leukocytosis, Chronic diarrhea... ORPHA:39041
Yellow Fever
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... ORPHA:99829
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Paradoxical increased cortisol secre... ORPHA:96253
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Telangiectasia of the skin, Autoimmunity, Malabsorption, Congestive heart fa... ORPHA:220393
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Recurrent pneumo... OMIM:301220
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypertension, Decreased DLCO, Pulmonary fibrosis, Glycosuria, Hypophosphatemic ... OMIM:618913
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Neonatal respiratory distress,... OMIM:260400
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Pyloric stenosis ORPHA:664
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Hemophag... ORPHA:79477
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Leigh Syndrome
Multiple joint contractures, Hypoglycemia, Eczema, Congestive heart failure, Hepatic failure, Gas... ORPHA:506
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circulating ACTH level, Hyperte... OMIM:219090
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating ... ORPHA:94086
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremi... OMIM:619652
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... OMIM:615962
Lymphoid Interstitial Pneumonia
Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmona... ORPHA:79128
Senior-Loken Syndrome
Hypertension, Congenital hepatic fibrosis ORPHA:3156
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Apnea, Low plasma citrulline, Elevated circulating alanine aminotrans... OMIM:261680
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Asthma, Atopic dermati... OMIM:618999
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Cirrhosis,... OMIM:601847
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Autoimmunity, Thrombocytopenia, Diarrhea, Recurrent upp... OMIM:615758
Glutaric Aciduria Iii
Hyperthyroidism, Diarrhea, Hypertension, Vomiting, Failure to thrive, Goiter OMIM:231690
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Trisomy 18P
High, narrow palate, Polyphagia, Pyloric stenosis, Attention deficit hyperactivity disorder ORPHA:1715
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Lact... OMIM:238600
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Pseudo-Torch Syndrome 3
Apnea, Cerebral hemorrhage, Lymphadenitis, Increased circulating ferritin concentration, Leukocyt... OMIM:618886
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Apparent Mineralocorticoid Excess
Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating al... OMIM:218030
Interstitial Lung And Liver Disease
Hepatic fibrosis, Vomiting, Cough, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Elevated circ... OMIM:615486
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... OMIM:214500
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... ORPHA:96182
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... OMIM:610198
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Iga Nephropathy, Susceptibility To, 1
Hypertension, Nephritis OMIM:161950
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Microtriplication 11Q24.1
Hyperlipidemia, Obesity, Cleft palate, Bruxism ORPHA:289522
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Hypogonadism ORPHA:261483
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... ORPHA:228308
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Hyperhid... ORPHA:813
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... OMIM:147060
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Eczema, Cholelithiasis, Hepatic failure OMIM:177000
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... OMIM:618282
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Le... OMIM:613989
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Polydipsia, Failure to thri... ORPHA:320
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Lessel-Kubisch Syndrome
Hypertension, Hypogonadism OMIM:618681
Familial Mediterranean Fever
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Menin... ORPHA:342
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:618183
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Respiratory tract infect... ORPHA:1303
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Recurrent infe... ORPHA:541423
Bloom Syndrome
Hepatic steatosis, Small for gestational age, Elevated hemoglobin A1c, Recurrent upper respirator... OMIM:210900
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Bardet-Biedl Syndrome 19
Hypogonadism, Hepatic steatosis, Obesity OMIM:615996
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T... OMIM:598500
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarrh... ORPHA:2930
Melas
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Vomi... ORPHA:550
Atypical Werner Syndrome
Fasting hyperinsulinemia, Hyperglycemia, Abnormality of the pulmonary artery, Hepatic steatosis, ... ORPHA:79474
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Abdominal distention, Insulin resistance, Rect... ORPHA:508
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Elevated circu... OMIM:301500
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... OMIM:608233
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... ORPHA:69076
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Rheumat... ORPHA:90060
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic fibrosis, Vomiting, Hypocholest... ORPHA:14
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Aganglionic megacolon, Flexion contracture, Interphalangeal thumb joint contracture,... OMIM:613870
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Pancytopenia, Feeding difficulties in... OMIM:251110
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Sepsis, Conjun... ORPHA:31204
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Melioidosis
Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Unusual skin in... ORPHA:31202
Fibronectin Glomerulopathy
Hypertension, Hypoalbuminemia, Cerebral hemorrhage ORPHA:84090
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... OMIM:615207
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-rea... OMIM:613011
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Hypoalbuminemia, Adrenal insufficiency, Hypogonadism, Lymphop... OMIM:617575
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react... ORPHA:91547
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Fat malabsorption, ... ORPHA:731
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, I... ORPHA:99413
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Mosaic Monosomy X
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, I... ORPHA:99228
Monosomy X
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, I... ORPHA:99226
Turner Syndrome
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, I... ORPHA:881
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Osteomyelitis lead... OMIM:256810
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Increased circulating IgA level, Pyloric stenosis, Recurrent infe... OMIM:616395
Steinert Myotonic Dystrophy
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Intestinal pseudo-o... ORPHA:273
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... OMIM:605309
Pseudohypoaldosteronism Type 2
Nausea and vomiting, Hypertension, Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Adiposis Dolorosa
Telangiectasia of the skin, Recurrent skin infections, Autoimmunity, Diarrhea, Xerostomia, Obesit... ORPHA:36397
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increase... OMIM:602450
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... ORPHA:90793
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Thrombocytopenia ORPHA:401945
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Feeding difficulties in infancy, Steatorrhea, Neutropenia, Exocrin... OMIM:618752
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris OMIM:614025
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Poor appeti... ORPHA:3163
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, A... OMIM:607765
Clark-Baraitser Syndrome
Hyperactivity, High palate, Obesity, Aggressive behavior OMIM:617752
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit... OMIM:611762
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Immunodeficiency 31C
Villous atrophy, Protein-losing enteropathy, Cough, Disseminated histoplasmosis, Recurrent vulvov... OMIM:614162
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Atopic dermatitis, Obesity ORPHA:397973
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Autoimmunity, Hyperhidrosis, Hypertension, Anemia OMIM:184850
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Respiratory insufficiency, Feeding difficulties, Res... OMIM:618329
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardial contractility, Respiratory... ORPHA:79102
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal... ORPHA:85138
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... ORPHA:449427
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Thromboc... ORPHA:508542
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Aggressive behavior, Malformation of the hepa... ORPHA:84081
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... OMIM:233710
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Insulin resistance, Obesity, T... ORPHA:91
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Gastrointestinal inflammation, Abnormal intrahepatic bile duct mor... ORPHA:186
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
Polycystic Kidney Disease 5
Hypertension, Hepatosplenomegaly OMIM:617610
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrictive pericarditis, A... ORPHA:90363
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... OMIM:277900
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Steatorrhea, Hepatic fa... OMIM:235555
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Alexander Disease
Nausea and vomiting, Diabetes mellitus, Sudden cardiac death, Bowel incontinence, Precocious pube... ORPHA:58
Cohen Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Feeding difficu... OMIM:216550
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Dyspnea, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Autoimmunity, Crackles, Elevated circulating C-reactiv... ORPHA:2902
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Respiratory distress, Hypoglycemia, Conjugated h... OMIM:617156
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to... OMIM:615438
Riddle Syndrome
Conjunctival telangiectasia, Bronchitis, Recurrent viral infections, Otitis media, Decreased circ... ORPHA:420741
Summitt Syndrome
Obesity OMIM:272350
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
1P36 Deletion Syndrome
Feeding difficulties in infancy, Abnormality of the spleen, Abnormality of the liver, Gastroesoph... ORPHA:1606
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... ORPHA:251380
Nephroblastoma
Abdominal pain, Weight loss, Neoplasm of the lung, Neoplasm of the liver, Hypertension ORPHA:654
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Respiratory distress, Hypogl... ORPHA:17
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... OMIM:233690
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Autoimmune thrombocytopenia, Increased LDL... ORPHA:77293
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Elevated circulating C-reac... ORPHA:1302
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... ORPHA:231625
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Increased circu... OMIM:242860
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Dilated cardiomyopathy, Cleft palate, High palate, Hypoalbumin... OMIM:616730
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypopla... OMIM:275350
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Steatorrhea, Recurrent infections, High p... OMIM:617941
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Dilated cardiomyopathy, Hepatic necro... OMIM:231530
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Obesity ORPHA:2206
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Glomerulonephritis, Abdominal pain, Antinuclear antibo... ORPHA:93126
Ochoa Syndrome
Recurrent urinary tract infections, Bowel incontinence, Hypertension, Constipation, Polydipsia ORPHA:2704
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal res... ORPHA:221139
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Obesity, Cleft palate, Recurrent infections, Bifid uvula, Tall stature OMIM:618089
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Emphysema, Ac... ORPHA:324
Mccune-Albright Syndrome
Abnormal endocrine physiology, Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone... ORPHA:562
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Hereditary Chronic Pancreatitis
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Abdominal pain, Jaundic... ORPHA:676
Poliomyelitis
Respiratory failure requiring assisted ventilation, Anorexia, Meningitis, Paralytic ileus, Hypert... ORPHA:2912
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Recurrent respiratory infections, Multiple joint contractures, Overweight, Respiratory insufficie... ORPHA:486815
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis, Decreased cir... OMIM:618278
Renal Hypoplasia, Bilateral
Hyponatremia, Neonatal respiratory distress, Small for gestational age, Hyperkalemia, Feeding dif... ORPHA:97362
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Congestive heart failure, Cardiomyopathy, Hep... ORPHA:52430
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Apnea, Feeding difficulties in infancy, Acute hepatic steatos... OMIM:210200
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Hypoglycemia, Pulmonary embolism... ORPHA:79282
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Atopic dermatitis, Obesity OMIM:606772
Cirrhosis, Familial
Abdominal distention, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, E... OMIM:215600
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity, Aggressive behavior OMIM:614202
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Episodic hyperhidro... OMIM:223900
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Cortisone Reductase Deficiency 1
Precocious puberty, Acne, Obesity OMIM:604931
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ... ORPHA:829
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Respiratory insufficiency, Hypertens... OMIM:602088
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Nausea, Jaundice, Insulin-dependent but ketosis-res... ORPHA:103918
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... OMIM:618892
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Feeding difficulties, Joint contracture, High palate, Neutropenia, Recurrent lower ... OMIM:618005
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Arrhythmia, Camptodactyly of finger, Furrowed tongue ORPHA:2928
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Acne, Premature thelarche, Isosexual pr... ORPHA:90795
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Hyperuricemia, Cardiomyopathy ORPHA:3222
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Aggressive behavior, Obesity, Recurrent infections, Feeding difficulties, Chronic constipation OMIM:619056
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia, Hyperaldosteronism OMIM:605635
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Feeding difficulties in infancy, Abdominal diste... ORPHA:226313
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... OMIM:619463
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Pancytopenia, Feeding difficulties in... OMIM:251100
Kleefstra Syndrome
Recurrent respiratory infections, Tracheomalacia, Aggressive behavior, Bowel incontinence, Dyspne... ORPHA:261494
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... OMIM:613070
Developmental And Epileptic Encephalopathy 66
Abnormal repetitive mannerisms, Anemia, Neutropenia OMIM:618067
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Hepatomegaly, Atelectasis, Recurrent E. coli... OMIM:306400
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Foot joint contracture, Scarring, Diarrhea, Uveitis,... ORPHA:90321
Nephronophthisis 18
Hypertension, Tubulointerstitial nephritis, Portal fibrosis, Cholestasis OMIM:615862
Pituitary Apoplexy
Hyponatremia, Nausea and vomiting, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:95613
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Birk-Landau-Perez Syndrome
Neonatal respiratory distress, Failure to thrive in infancy, Hyperkalemia, Feeding difficulties, ... OMIM:617595
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... OMIM:619377
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
3-Methylglutaconic Aciduria, Type Viii
Apnea, Jaundice, Neutropenia, Feeding difficulties, Hypopnea, Respiratory failure, Bradycardia, D... OMIM:617248
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Thrombocytopenia, Ab... OMIM:230800
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Increased circul... ORPHA:37748
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Hypertension, Transient hyperphenylalaninemia, Rheumatoid arthr... ORPHA:98808
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, S... ORPHA:3226
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein concentr... OMIM:613095
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir... ORPHA:2590
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Diarrhea, Increased hepatic glycogen content OMIM:261750
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abdominal ... ORPHA:2357
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Retinal hemorrhage, Re... ORPHA:88
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Erythroid hyperplasia, Hemoly... ORPHA:447
Acute Intermittent Porphyria
Hyponatremia, Restlessness, Tachycardia, Nausea and vomiting, Abdominal pain, Abdominal distentio... ORPHA:79276
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Steatorrhea, Recurrent infections, Feeding difficul... OMIM:618268
Bardet-Biedl Syndrome
Obesity, Hypertension, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis ORPHA:110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Intestinal obstruction, ... OMIM:600802
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Feeding difficulties, Constipation, Compulsive behav... OMIM:618430
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Feeding difficulties, Trun... ORPHA:3041
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Microvesicular hepatic ste... OMIM:611126
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Autoimmunity, Increased circulating IgG4... ORPHA:449400
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Attention deficit hyperactivity diso... OMIM:619971
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, High, narrow palate,... ORPHA:369837
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron... OMIM:242700
Serotonin Syndrome
Restlessness, Tachycardia, Diarrhea, Tachypnea, Hyperhidrosis, Hypertension, Agitation, Hypotensi... ORPHA:43116
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Poor appetite, Insulin resistance, Right bundle branch block... OMIM:619322
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Respiratory insufficiency due to muscle weakness, Vomiting, Decreased liver functio... ORPHA:436271
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Aggressive behavior, Feeding difficulties in infancy, Nasogastric tube feeding in i... ORPHA:251028
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Obesity, Chronic constipation, Hyperuricemia, Attention deficit hyperactiv... ORPHA:261222
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Recurrent respiratory infections, Hypoglycemia, Hyperlipidemia, Recurrent infections, Hyperuricemia ORPHA:364
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Congenital diaphragmatic hernia OMIM:166300
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypertens... OMIM:610965
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Hypoglycemia, Jaundice, Vomiting, Pulmonary hypoplasia, Glyco... OMIM:231680
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Galloway-Mowat Syndrome 7
Eczema, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cleft palate, High palate, Hyp... OMIM:618348
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Panc... OMIM:145981
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Nephronophthisis 15
Elevated hepatic transaminase, Obesity OMIM:614845
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Diarrhea, ... OMIM:211600
Hyperaldosteronism, Familial, Type Iv
Hypertension, Hyperaldosteronism OMIM:617027
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia OMIM:611489
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Esophageal atresia, Obesity, Tracheoesophageal ... ORPHA:3157
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Nausea, Congestive hea... ORPHA:31826
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Small for gestational age, Gastroparesis, Hyperammonemia, Respiratory insufficie... OMIM:614052
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr... OMIM:615363
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Asthma, Obesity, Male hypogonadism, Hypercholesterolemia, Pancreat... OMIM:619471
White-Sutton Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Hypoglycemic seizur... OMIM:616364
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Recu... OMIM:145001
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Thrombocytopenia, High palate, Neutropenia, Umbilical hernia, Failure ... OMIM:614520
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... ORPHA:98897
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Apnea, Flexion contracture, Obesity, High palate, Bruxism, Male hypogonadism, Wrist... OMIM:300055
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Abs... OMIM:619693
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Cleft palate, Truncal obesity, High palate, Enamel hyp... OMIM:618363
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumon... OMIM:619057
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Atelectasis, Wheezing, Pneumothorax, ... ORPHA:70588
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Elevated hepatic transaminase, Repetitive compulsive behavior, Microvesicu... ORPHA:66634
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Abdominal pain, Elevated circulating sitosterol con... OMIM:210250
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... ORPHA:276621
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing, Feeding difficulties OMIM:619854
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Nausea, Eosinophilic infiltra... ORPHA:411696
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Central hypoventilation, Feeding difficulties, Chronic constipation, Respiratory failure, ... OMIM:619483
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C... ORPHA:54251
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... OMIM:300455
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Trisomy 5P
Obesity ORPHA:1742
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Eczema, Aggressive behavior, Pica, Obesity, High palate OMIM:620191
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Abdominal pain, Splenomegaly, Jaundice, Splenic infarction, Leuko... OMIM:603903
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Intermittent hyperventilation, Aggressive behavior, Precocious puber... ORPHA:163681
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris ORPHA:140905
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circula... OMIM:613677
Plague
Respiratory distress, Chapped lip, Glossitis, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, A... ORPHA:707
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot... OMIM:116920
Sarcoidosis, Susceptibility To, 1
Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland... OMIM:181000
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Protruding tongue, Tongue thrusting, Obesity, Feeding difficulties, Ina... ORPHA:411511
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Feeding difficulties, Hypertension, Recurrent otitis media, Umb... OMIM:619758
Cystic Fibrosis
Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormality of the li... ORPHA:586
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Atelis Syndrome 2
Dyspnea, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperi... OMIM:620185
Pancreatitis, Hereditary
Diabetes mellitus, Abdominal pain, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, ... OMIM:167800
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein... ORPHA:449563
Multiple Endocrine Neoplasia Type 2
Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromato... ORPHA:653
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Peribr... ORPHA:244
Chromosome 16P13.3 Deletion Syndrome, Proximal
Feeding difficulties in infancy, Obesity, Recurrent infections, High palate, Polysplenia, Failure... OMIM:610543
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre... ORPHA:231632
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Weaver Syndrome
Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... OMIM:277590
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Feeding difficulties, Constipation, Gastroesophageal reflux, Neutropenia OMIM:620012
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Caudal Regression Syndrome
Bowel incontinence, Impulsivity, Maternal diabetes, Hypertension, Pulmonary hypoplasia, Anal atresia ORPHA:3027
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia OMIM:615918
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism... OMIM:612462
Monosomy 18P
Hypertension, Hypothyroidism, Autoimmunity, Cleft palate ORPHA:1598
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Feeding difficulties in infancy, High, narrow p... OMIM:616914
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Ele... ORPHA:81
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Neonatal sepsis, Decreased circulating cortisol level, Adrenal hyperplasia, Hypogly... ORPHA:90790
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Anorexia, Pulmonary emb... ORPHA:394
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Obesity, Respiratory insufficiency OMIM:615633
Senior-Loken Syndrome 9
Obesity, Cholestasis, Tubulointerstitial nephritis, Hypogonadism, Hepatic fibrosis, Chronic bronc... OMIM:616629
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... OMIM:307030
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Diarrhea, Elevated circulating creatinine concentration, Schisto... OMIM:235400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Feeding difficulties in infancy, Periodontitis, Gastroesophag... ORPHA:534
Nephrotic Syndrome, Type 1
Neonatal respiratory distress, Small for gestational age, Hypothyroidism, Hyperlipidemia, Pyloric... OMIM:256300
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, Glucose intolerance, T lymphocytopenia, Hypoplasia of the... OMIM:208900
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Hypo... OMIM:600740
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... ORPHA:1959
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, Abnor... ORPHA:173
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Trichothiodystrophy
Congenital exfoliative erythroderma, Multiple joint contractures, Eczema, Recurrent bronchopulmon... ORPHA:33364
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... OMIM:270450
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Abnormal lung lobation, Hypoalbuminemia, Vomiting, Gastroesophageal... OMIM:270400
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatic failure, Hepatitis, Diarr... OMIM:613812
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadi... ORPHA:2183
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Dyspnea, Hig... OMIM:251900
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Protruding tongue, Tongue thrusting, Obesity, Feeding di... ORPHA:98794
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Asthma, Recurrent pneumonia, Polyphagia, ... OMIM:620330
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abnormal dental enamel morphology, Abdominal pa... ORPHA:79430
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Xp21 Deletion Syndrome
Nausea and vomiting, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating cr... ORPHA:261476
Familial Dysautonomia
Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Recurrent res... ORPHA:1764
Gm1 Gangliosidosis
Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger, Congestive heart fail... ORPHA:354
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Camptodactyly of finger, M... ORPHA:2176
Porphyria, Acute Intermittent
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Respiratory paralysis, Vomi... OMIM:176000
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Eosinophilia, Pu... ORPHA:139402
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp... ORPHA:91347
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Malabsorption, Spleno... ORPHA:379
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... OMIM:171400
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Tran... ORPHA:156
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... ORPHA:2126
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix,... OMIM:216360
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Precocious puberty, High, narrow palate, Obesity, Gastroesophag... OMIM:619312
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... ORPHA:758
Rothmund-Thomson Syndrome Type 1
Calcinosis, Small for gestational age, Abnormal dental enamel morphology, Aplastic anemia, Diarrh... ORPHA:221008
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s... ORPHA:733
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal p... ORPHA:29207
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Tachypnea, Small for gestational age, Pulmonary arterial hypertension OMIM:613320
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Apnea, Episodic tachypnea, Hyperhidrosis, Aspiration pneumonia, Dysphagia, Abnormal ... ORPHA:79264
Neuhauser Syndrome
High palate, Primary hypothyroidism, Dysphagia, Hypercholesterolemia, Bifid uvula OMIM:249310
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Hypogonadism, Obesity ORPHA:2233
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Truncal obesity, H... ORPHA:284180
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:603233
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Abdominal... OMIM:229600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... ORPHA:98849
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... OMIM:188400
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... ORPHA:29072
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Recurrent urinary tract infections, Overweight, Obesity, Dysphagia, Agitatio... OMIM:619229
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contract... OMIM:616263
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Increased hepatocellular lipid droplets, Respiratory insuffic... OMIM:220110
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Feeding difficulties, Hypertension, Hypokalemia, Gastroes... OMIM:617913
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Recurrent respiratory infections,... ORPHA:404454
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Pyloric stenosis, Jaundice, ... ORPHA:93111
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections... ORPHA:163956
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Vomiting, Gastroesophageal reflux, Cough, Hepatomegaly, Tricuspid regurgitation, Atelec... OMIM:620233
Cartilage-Hair Hypoplasia
Hepatomegaly, Aganglionic megacolon, Malabsorption, Heart block, Abnormality of the pancreas, Res... ORPHA:175
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... ORPHA:533
Oligomeganephronia
Pulmonary venous occlusion, Small for gestational age, Congenital diaphragmatic hernia, Elevated ... ORPHA:2260
Baralle-Macken Syndrome
High, narrow palate, Obesity OMIM:619255
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... ORPHA:227990
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Hypertriglyceridemia, Eleva... OMIM:619127
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, H... ORPHA:2089
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity, High palate ORPHA:85280
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Eczema, Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism, Feeding difficulties ORPHA:464288
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Myocardial infarction, Overweight, High pa... ORPHA:457240
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... OMIM:614473
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anal stenosis, Macrocytic anemia, Aga... OMIM:250250
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Small for gestational age, Eczema, Apnea, Aggressive behavior, Poor appetite, Gastroi... OMIM:617799
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis... ORPHA:1018
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development OMIM:610628
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Anti-granulocyte-macrop... OMIM:610910
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, High palate, Obesity ORPHA:1035
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Premature thelarche, Atrioventricular block, Hypertension, Arthritis, Type I diabete... ORPHA:371428
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Tics, Vomiting, Compulsive behaviors, Otitis media, High palate, Abnormal re... OMIM:619475
Ataxia-Oculomotor Apraxia Type 4
Obesity, Telangiectasia ORPHA:459033
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... ORPHA:227982
Juvenile Dermatomyositis
Bundle branch block, Myositis, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:93672
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea, Weight loss, Hypertension, Failure to thrive, Anemia OMIM:256700
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Arterial Tortuosity Syndrome
Respiratory distress, Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial inf... ORPHA:3342
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Feeding difficulties in infancy, Obesity ORPHA:254525
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Obesity OMIM:618124
Bardet-Biedl Syndrome 21
Overweight, Obesity, Elevated hepatic transaminase OMIM:617406
22Q11.2 Deletion Syndrome
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Abnormal lung lobat... ORPHA:567
Kleefstra Syndrome 1
Recurrent respiratory infections, Aggressive behavior, Protruding tongue, Obesity, Macroglossia, ... OMIM:610253
Marbach-Schaaf Neurodevelopmental Syndrome
Aggressive behavior, Submucous cleft hard palate, Obesity, Attention deficit hyperactivity disord... OMIM:619680
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Con... ORPHA:99745
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Vomiting, Hepatic steatosis OMIM:201450
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Obesity OMIM:600151
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Cleft palate, Hepat... OMIM:301066
Cornelia De Lange Syndrome 5
Feeding difficulties in infancy, Cleft palate, Truncal obesity, High palate, Hypogonadism, Gastro... OMIM:300882
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent infections, Hypohidrosis, Recurrent bacterial infections, ... OMIM:612783
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr... OMIM:277700
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Angina pectoris, Camptodactyly of finger, Splenom... ORPHA:93473
Diamond-Blackfan Anemia 7
Macrocytic anemia, Cleft palate, Recurrent infections, Increased mean corpuscular volume, Esophag... OMIM:612562
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Camptodactyly of finger, Aggressive behavior, Feeding difficulties ... OMIM:607872
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno... ORPHA:85414
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Neonatal respiratory distress, Small for gestational age, Flexion contr... ORPHA:79243
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Hypertension, Mitral regurgitation, Hepatic cysts OMIM:173900
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Postorgasmic Illness Syndrome
Hypertension, Xerostomia, Palpitations, Hyperhidrosis ORPHA:279947
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Hypoglycemia, Precocious puberty, In... ORPHA:786
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re... OMIM:610984
Rothmund-Thomson Syndrome
Calcinosis, Skin rash, Telangiectasia of the skin, Small for gestational age, Abnormal dental ena... ORPHA:2909
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... ORPHA:381
Pseudohypoparathyroidism, Type Ia
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:103580
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... ORPHA:507
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Apnea, Flexion contracture, Retinal hemorrhage, Corne... OMIM:614653
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... ORPHA:79445
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, High palate, Raynaud phenomenon, ... ORPHA:740
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, H... OMIM:612780
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Increased circulating IgE level, Obesity, Hypogonadism, Flexion contract... ORPHA:3409
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Aggressive behavior, Macroglossia, Abdominal obesity, Hypogonadism, Delayed puberty OMIM:300354
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Decreased mitochondrial complex III activity in ... OMIM:124000
2Q37 Microdeletion Syndrome
Eczema, Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Attention deficit hyperactivi... ORPHA:1001
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Abdominal pain, Respiratory insuf... ORPHA:2135
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618126
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... OMIM:263200
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Letterer-Siwe Disease
Seborrheic dermatitis, Dyspnea, Jaundice, Abdominal distention, Thrombocytopenia, Hepatosplenomeg... OMIM:246400
Khan-Khan-Katsanis Syndrome
Lymphopenia, Tricuspid regurgitation, Neutropenia, Corneal scarring, Feeding difficulties, Dyspha... OMIM:618460
Down Syndrome
Aganglionic megacolon, Protruding tongue, Obesity, Narrow palate, Acute megakaryocytic leukemia, ... ORPHA:870
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity, Hypot... ORPHA:439822
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Cholestasis, Hypertension, Reduced number of intrahepat... ORPHA:52
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Liddle Syndrome 1
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:177200
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi... OMIM:171420
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ... ORPHA:536532
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Raynaud phenomenon, Discoid lupus rash, Antinuclear antibody p... ORPHA:536
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Small for gestational age, Hypoglycemia, Increased hepatocellular lipid droplets... OMIM:220111
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Mitral regurgitation, Abdominal obesity, Disproportionate tall stature, Atte... OMIM:301039
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Mucopolysaccharidosis Type 2
Abnormal repetitive mannerisms, Oppositional defiant disorder, Hepatomegaly, Hyperactivity, Recur... ORPHA:580
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Idiopathic Intracranial Hypertension
Vomiting, Obesity, Nausea ORPHA:238624
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Ogden Syndrome
Apnea, Maternal diabetes, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficie... OMIM:300855
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Sotos Syndrome
Neonatal hypoglycemia, Aggressive behavior, High, narrow palate, Increased body weight, Narrow pa... OMIM:117550
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, High palate, Abnormal repetitive mannerisms, Hypothyroidism ORPHA:2479
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Polycystic liver disease, Pancreatic cysts, Elevated circulat... ORPHA:730
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Hyperhidrosis, Glomus jugular tumor, Adrenal pheochro... OMIM:605373
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... OMIM:619534
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency, Abnormal intestine morphology ORPHA:977
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Renal hypophosphatemia, Hypercalcemia, Peptic ulcer, Autoimmunity, Hypermagn... ORPHA:405
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... OMIM:614492
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Respiratory tract infection, Hyperlipidemi... ORPHA:567546
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Acute Transverse Myelitis
Orthostatic hypotension, Invasive parasitic infection, Decreased circulating copper concentration... ORPHA:139417
Tenorio Syndrome
Hypoglycemia, Apnea, Raynaud phenomenon, Recurrent pneumonia, Macroglossia, Keratoconjunctivitis ... OMIM:616260
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... OMIM:300869
Hermansky-Pudlak Syndrome 1
Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of the large intestine, Col... OMIM:203300
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abdo... ORPHA:793
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Aggressive behavior, Obesity, Narrow palate, Gastroesophageal reflux, Overgrowth OMIM:620250
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti... ORPHA:99832
Alagille Syndrome 2
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Peripheral pulmonary art... OMIM:610205
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Decreased serum leptin, Dyspnea, Flexion contracture, Right bundle branch block, Hyp... OMIM:614008
Renal Hypoplasia
Hypertension, Polydipsia, Small for gestational age, Recurrent urinary tract infections ORPHA:93101
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Restrictive ventilatory defect, Abnormal circulating... ORPHA:369840
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Gout OMIM:618061
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Gastroparesis, Recur... ORPHA:70
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Hypokalemia, Primary hyperaldosteronism, Pulm... OMIM:615474
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Nelson Syndrome
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... ORPHA:199244
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Pseudohypoparathyroidism OMIM:612463
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... ORPHA:157
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Decreased liver function, Hepatic cysts OMIM:600666
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia OMIM:614495
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Macroglo... ORPHA:309288
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites, Gastroesophageal reflux ORPHA:2414
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit... OMIM:617050
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Fanconi Anemia, Complementation Group I
Neutropenia, Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased bod... OMIM:609053
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension, Hypothyroidism OMIM:617763
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture, High palate ORPHA:90153
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... ORPHA:90301
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft palate, Feeding difficulties, G... ORPHA:261197
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... ORPHA:3464
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612926
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia OMIM:614496
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Feeding difficulties, Cardiomyopathy, Respiratory failure, Decreased liver function... OMIM:614922
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Inguinal hernia, Shortened PR interval, Obesity, Hypertension, Re... OMIM:614947
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Inguinal hernia, Transient ischemic attack, Subarachnoid hemorrhage, High, ... ORPHA:91387
Rabin-Pappas Syndrome
Hyponatremia, Hypoventilation, Failure to thrive in infancy, Retinal telangiectasia, Obesity, Fee... OMIM:620155
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Se... ORPHA:95455
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Encopresis, Obesity, Gastroesophageal reflux, High palate, Compulsive behaviors OMIM:618443
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
White-Sutton Syndrome
Ventral hernia, Abnormality of the gastrointestinal tract, Hyperactivity, Inguinal hernia, Congen... ORPHA:468678
Galloway-Mowat Syndrome 3
Hiatus hernia, Hypertension, Hypoalbuminemia, High palate, Camptodactyly, Failure to thrive OMIM:617729
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Obesity, Tall stature OMIM:300602
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... OMIM:619525
Aregenerative Anemia
Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion... ORPHA:101096
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Abnormality of the pancreas, Narrow palate, Cleft palate, Anteriorly placed... ORPHA:1555
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Recurrent infections, Feeding diff... OMIM:619273
Carpenter Syndrome
Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612925
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Obesity, Weight loss, High palate, At... ORPHA:251071
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612924
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ... ORPHA:85293
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes... OMIM:619708
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Chronic Myeloid Leukemia
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... ORPHA:521
Williams-Beuren Syndrome
Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Glucose intolerance, Early... OMIM:194050
Distal Deletion 12Q
Late onset atopic dermatitis, Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Mat... ORPHA:96149
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio... ORPHA:805
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Abdominal pain, P... ORPHA:892
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Hyperactivity, Small for gestational age, High, narrow palate, ... OMIM:234100
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Joubert Syndrome 37
Hepatomegaly, High palate, Obesity OMIM:619185
Pmm2-Cdg
Respiratory distress, Multiple joint contractures, Elevated circulating thyroid-stimulating hormo... ORPHA:79318
Arima Syndrome
Hepatomegaly, Dyspnea, Tachypnea, Esophageal varix, Hypertension, Hepatic fibrosis, Cirrhosis, Po... OMIM:243910
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Abnormality of the pineal gland, Eczema, Aggressive behavior, Seb... ORPHA:369950
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Splenomegaly, Mediast... ORPHA:91138
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Intrahepatic cholestasis, High pa... OMIM:606812
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension OMIM:616589
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Feeding dif... OMIM:261515
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Gastroesophageal reflux, Compulsive behaviors, Otitis media, Abnormal repetitive mannerisms, Hype... ORPHA:353281
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Cleft palate, Neutropenia, Congenital thrombocytopenia, Anemia OMIM:616738
Carpenter Syndrome 1
Omphalocele, Precocious puberty, Obesity, High palate, Polysplenia, Pulmonic stenosis, Umbilical ... OMIM:201000
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Esophageal atresia, Thro... OMIM:227646
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Abdominal pain, Increased circulating IgA level, Lymphadenitis, Leukocyt... OMIM:260920
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, C... OMIM:118450
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Microcytic anemia, Abnormal isohemagglutinin level, Hepatomegaly, Chronic l... ORPHA:99843
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Marshall-Smith Syndrome
Omphalocele, Apnea, Pyloric stenosis, Recurrent upper respiratory tract infections, Premature ven... OMIM:602535
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens... ORPHA:347
Cohen Syndrome
Failure to thrive in infancy, Aplasia/Hypoplasia of the tongue, Feeding difficulties in infancy, ... ORPHA:193
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Hepatic steatosis, Loss of facial adipose ... ORPHA:3455
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Feeding difficulties in infancy, Hepa... ORPHA:116
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Wagr Syndrome
Obesity ORPHA:893
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Hypoventilation, Recurrent pneumonia, Elbow flexion contracture, Obesity, Consti... OMIM:618493
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperiton... ORPHA:64744
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Recurrent respiratory infections, Aggressive behavior, Asthma, Obesity, Self-injurious behavior, ... ORPHA:466950
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Inguinal hernia, Femoral hernia, Protruding tongue, Obesity, Feeding diffic... ORPHA:96147
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... ORPHA:99772
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Alport Syndrome
Dyspnea, Dysphagia, Stridor, Hypertension, Vomiting, Cough, Nephritis, Recurrent bronchitis ORPHA:63
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Weight loss, Aspiration pneumonia, Cough, Attention deficit hyperactivity disorder ORPHA:216866
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Large for gestational age, Precocious puberty, Recurrent infections, Self-injuri... ORPHA:261652
Primary Progressive Freezing Gait
Restless legs, Hypertension, Dysphagia ORPHA:75567
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Feeding difficulties in infancy,... OMIM:277400
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Cough, Splenomegaly, Thrombocytopenia, Feeding difficulties, Stridor, Gastro... OMIM:230900
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia, Feeding difficulties OMIM:616672
Arterial Tortuosity Syndrome
Aortic regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Pulmonary ... OMIM:208050
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteomyelitis, Failure to thrive in infancy, Skin rash, Eleva... OMIM:612852
Angelman Syndrome
Hyperactivity, Protruding tongue, Feeding difficulties in infancy, Obesity, Macroglossia, Constip... OMIM:105830
Fragile X-Associated Tremor/Ataxia Syndrome
Bowel incontinence, Dysphagia, Hypertension, Hypotension, Compulsive behaviors, Hypothyroidism ORPHA:93256
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a... ORPHA:77297
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis OMIM:145980
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial pneumonitis, Vomitin... ORPHA:454831
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Hypochloremia, Hypertension, Hypokalemia, Hyperaldostero... ORPHA:89938
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, High palate, Obesity ORPHA:2180
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Feeding difficulties in infancy,... ORPHA:500055
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Recurrent pneumonia, Recurrent upper respiratory tract infections, Fee... OMIM:619769
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Gout, Hypertension, Tubulointerstitial nephritis, ... OMIM:174000
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Kindler Epidermolysis Bullosa
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Esophageal... ORPHA:2908
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Abnormal blood ion concentration, Sepsis, Gastrointestinal inflammation, Vo... ORPHA:79404
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E... ORPHA:90044
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Cleft palate, Disproportionate tall stature, H... OMIM:615300
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased ... ORPHA:177907
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth ho... OMIM:131100
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Asthma, Nasal flaring, Gastrointestinal dysmotility, Obesity, Recurrent infe... ORPHA:466943
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Orthostatic hypotension, Obesity, Dysphagia ORPHA:2822
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Recurrent respiratory infections, Cholangitis, Pancreatic cysts, Congenital hepatic... OMIM:266920
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature, Feeding difficulties ORPHA:85325
Müllerian Aplasia And Hyperandrogenism
Acne, Obesity, Cleft palate, Increased serum testosterone level ORPHA:247768
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Anhidrosis, Elevated hepatic transaminase, Dia... ORPHA:191
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Restrictive ventilatory defect, Flexion contracture, Elevated circulating creatine kin... OMIM:253700
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Anemia OMIM:244460
Degcags Syndrome
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Gastroesophageal reflux, High pala... OMIM:619488
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Adrenogenita... OMIM:202010
Chops Syndrome
Gastroparesis, Splenomegaly, High, narrow palate, Obesity, Anomalous pulmonary venous return, Gas... OMIM:616368
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Myositis, Gastritis, Pericarditis, S... ORPHA:809
Williams Syndrome
Elevated circulating creatine kinase concentration, Myocardial infarction, Rectal prolapse, Gastr... ORPHA:904
Rothmund-Thomson Syndrome Type 2
Calcinosis, Small for gestational age, Abnormal dental enamel morphology, Aplastic anemia, Diarrh... ORPHA:221016
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Inguinal hernia, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibo... OMIM:248500
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Dyspnea, Hyperlipidemia, Heart murm... ORPHA:391665
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Autoim... ORPHA:436252
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity, Feeding difficulties OMIM:300957
Mucopolysaccharidosis Type 3
Flexion contracture, Atrioventricular block, Otitis media, Aspiration pneumonia, Chronic otitis m... ORPHA:581
Infantile Neuroaxonal Dystrophy
Hyperactivity, Impulsivity, Flexion contracture, Apneic episodes in infancy, Constipation, Aspira... ORPHA:35069
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Myeloid leukemia, Hepatic fa... ORPHA:331
Retinitis Pigmentosa 51
Obesity OMIM:613464
Congenital Macroglossia
Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion c... OMIM:619503
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Recurrent infections, N... OMIM:617827
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Hypertriglyceridemia, Smal... OMIM:264090
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... OMIM:309000
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Cholangitis, Splenomegaly, Recurren... OMIM:613610
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity OMIM:615994
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... ORPHA:60025
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... OMIM:615926
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic diarrhea, Chronic... OMIM:158310
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Obesity, Heart murmur, Recurrent infections, Anteriorly placed anus, Feeding dif... OMIM:618653
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Thrombocytopenia, Flexio... OMIM:227645
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Shox-Related Short Stature
High palate, Obesity ORPHA:314795
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Hypertension, Chronic pancreatitis OMIM:613159
Desbuquois Dysplasia 1
Neonatal respiratory distress, Osteoarthritis, Obesity OMIM:251450
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... OMIM:616026
Nephronophthisis 1
Hypertension, Polydipsia, Anemia OMIM:256100
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Laurence-Moon Syndrome
Obesity OMIM:245800
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Increased connective tissue, Flexion contracture, Ab... ORPHA:98905
Denys-Drash Syndrome
Hypertension ORPHA:220
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Inguinal hernia, Tricuspid regurgitation, Pneumonia, Splenomegaly, Flexion contract... OMIM:253200
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Thrombocytopenia, Reticu... OMIM:600901
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia OMIM:191830
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Chronic diarrhea, Obesity, Anemia OMIM:620072
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Ulnar-Mammary Syndrome
Camptodactyly of finger, Pyloric stenosis, Obesity, Ectopic anus, Delayed puberty, Arrhythmia, He... ORPHA:3138
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Mednik Syndrome
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon OMIM:609313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615356
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Camptodactyly of finger, Recurrent ear infections, Splenomegaly, Flexion contrac... ORPHA:217085
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Skin rash, Abdominal pain, Orchitis, S... ORPHA:32960
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Fanconi Anemia, Complementation Group A
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Thrombocytopenia, Reticu... OMIM:227650
Adenine Phosphoribosyltransferase Deficiency
Abdominal colic, Hypertension, Recurrent urinary tract infections, Atrial fibrillation ORPHA:976
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Acromegaly
Diabetes mellitus, Acne, Hypogonadotropic hypogonadism, Elevated circulating growth hormone conce... ORPHA:963
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Cleft palate OMIM:614424
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Chromomycosis
Keratitis, Abnormal lung morphology, Atypical scarring of skin, Recurrent bacterial infections, K... ORPHA:182
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Camptodactyly of finger, Recurrent ear infections, Splenomegaly, Flexion contrac... ORPHA:217093
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Congestive heart failure, Dilated cardiomyo... OMIM:208000
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi... OMIM:171300
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia, Attention deficit hyperactivity disorder, Dysphagia ORPHA:52368
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Feeding difficulties, Chronic constipation, Aspiration pneumonia, Fa... OMIM:616430
Blau Syndrome
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... ORPHA:90340
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Obesity-Hypoventilation Syndrome
Hypoventilation, Obesity OMIM:257500
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension, Gastric ulcer, Delayed puberty, Anemia OMIM:208060
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Congestive heart failure, Asthma, Obesity,... ORPHA:444077
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Hypertension, He... OMIM:193300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Anhidrosis, Hepatomegaly, Hip contracture, Splenomegaly, Ena... OMIM:216400
Au-Kline Syndrome
Bifid tongue, Cleft palate, Feeding difficulties, Hypertension, Constipation, Gastroesophageal re... OMIM:616580
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... OMIM:609536
Herpes Simplex Virus Encephalitis
Hyponatremia, Respiratory failure requiring assisted ventilation, Nausea and vomiting, Neutrophil... ORPHA:1930
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Uveiti... OMIM:186580
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure OMIM:619431
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, High palate, Ta... ORPHA:2563
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Megalencephaly
Truncal obesity ORPHA:2477
Sarcoidosis
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Uveitis, ... ORPHA:797
Alport Syndrome 3A, Autosomal Dominant
Glomerulonephritis, Hypertension, Hypophosphatemia, Azotemia, Nephritis OMIM:104200
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... OMIM:208540
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Hyperactivity, Sinusitis, Recurrent urinary tract infections, Dysgam... OMIM:251260
Apert Syndrome
Feeding difficulties in infancy, Esophageal atresia, Respiratory insufficiency, Narrow palate, Cl... ORPHA:87
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Large for gestational age, Seborrheic dermatitis, Birth length gre... OMIM:300868
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Overweight, High, narrow palate, Head-banging, Feeding difficul... OMIM:619575
Cryoglobulinemia, Familial Mixed
Hypertension, Elevated circulating creatinine concentration OMIM:123550
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:314769
Diamond-Blackfan Anemia 11
Bilateral cleft palate, Anemia of inadequate production, Neutropenia OMIM:614900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Hi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Hi... ORPHA:353277
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Anhidrosis, Small for gestational age, Splenom... OMIM:133540
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Heart murmur ORPHA:1867
Alport Syndrome 2, Autosomal Recessive
Hypertension, Nephritis OMIM:203780
Scalp-Ear-Nipple Syndrome
Recurrent urinary tract infections, Hypohidrosis, Pyelonephritis, Hypertension, Type I diabetes m... ORPHA:2036
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... ORPHA:93924
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Leukocytosis, Flexion contracture, Abdominal obesity, ... OMIM:619321
Amoebiasis Due To Free-Living Amoebae
Restlessness, Unusual skin infection, Sinusitis, Increased red blood cell count, Pneumonia, Pustu... ORPHA:68
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Aortic Arch Interruption
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa... ORPHA:2299
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Fasciitis, Anhidrosis, Osteomyelitis, Impulsivity, Abscess, Tooth abs... ORPHA:642
Joubert Syndrome 8
Hyperventilation, Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenome... ORPHA:309282
Congenital Fiber-Type Disproportion Myopathy
Poor appetite, Nasogastric tube feeding in infancy, Flexion contracture, Knee flexion contracture... ORPHA:2020
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Intellectual Developmental Disorder, Autosomal Dominant 68
Recurrent infections, Feeding difficulties, Gastroesophageal reflux, Joint contracture of the 5th... OMIM:619934
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Cleft soft palate, Pure red cell aplasia, Eryt... ORPHA:124
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Recurrent respiratory infections, Diabetes mellitus, Jaundice, Obe... OMIM:614231
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism, Feeding difficulties in infancy ORPHA:127
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Panniculitis, Inflammatory abnor... ORPHA:33577
Japanese Encephalitis
Hyponatremia, Respiratory distress, Pulmonary edema, Neutrophilia, Anorexia, Abdominal pain, Meni... ORPHA:79139
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis... OMIM:301072
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Asthma, Obesity, Periodontitis, Type I diabetes mellitus, Dentinogenesis impe... OMIM:619269
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Abdominal pain, Abdominal distention, Thrombocytopenia, Hy... ORPHA:2330
Neurofibromatosis Type 1
Abnormality of the endocrine system, Precocious puberty, Chronic myelogenous leukemia, Hypertensi... ORPHA:636
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Feeding difficulties, Mitral regur... OMIM:619167
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Hypertension, Nephritis, Thrombocytopenia OMIM:301050
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Failure to thrive in infancy, Decreased response to growth hormone stimula... ORPHA:529962
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... OMIM:201750
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Aggressive behavior, Obesity, Narrow palate, Self-injurious behavior, High palate,... OMIM:616078
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Right ventricular hypertrophy OMIM:616028
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis, Tachypnea, Hypertension, Pulmonary arterial hypertension... OMIM:613834
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Congenital Myopathy 9A
Obesity OMIM:618822
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Posterior Urethral Valve
Hypertension, Recurrent urinary tract infections, Pyelonephritis ORPHA:93110
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Feeding difficulties in infancy, Narrow palate, Anteriorly placed anus, Hyp... OMIM:123790
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Abnormal dental enamel morphology, Hamartoma of tongue, Pancreatic... ORPHA:2750
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Abdominal pain, Chronic pancreatitis, Insulin-dependent but ketosis-res... OMIM:608189
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Palmoplantar hyperhidrosis OMIM:610644
Tangier Disease
Hypertriglyceridemia, Abdominal pain, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia, ... ORPHA:31150
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Poikilocytos... OMIM:300908
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
White-Kernohan Syndrome
Obesity, Anteriorly placed anus, Gastroesophageal reflux, Rectovaginal fistula, Attention deficit... OMIM:619426
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Frontometaphyseal Dysplasia 2
Hip contracture, Elbow contracture, Feeding difficulties in infancy, Pyloric stenosis, Ulcerative... OMIM:617137
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Acne, Diarrhea, Vacuolated lymphocytes, Macroglos... OMIM:208400
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Precocious puberty, Truncal obesity, Attention deficit hyperact... ORPHA:2637
Orofaciodigital Syndrome I
Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Hypertension, Lobulated tong... OMIM:311200
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Abnormality of glycolipid metabolism, Precocious puberty, GM... ORPHA:845
Monosomy 22Q13.3
Nausea and vomiting, Hyperactivity, Recurrent skin infections, Hair-pulling, Obesity, Hypohidrosi... ORPHA:48652
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... OMIM:127550
Achondroplasia
Hypoxemia, Restrictive ventilatory defect, Obesity ORPHA:15
Momo Syndrome
High palate, Overgrowth, Obesity OMIM:157980
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... OMIM:258360
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Flexion contracture, Mal... ORPHA:99027
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Small intestinal dysmotility, Sinus bradycardia, Hypopnea, Restrictive ve... OMIM:619482
Hunter-Macdonald Syndrome
Aortic regurgitation, Inguinal hernia, Premature osteoarthritis, Hypertension, Mitral regurgitati... OMIM:611962
Papillorenal Syndrome
Hypertension, Elevated circulating creatinine concentration OMIM:120330
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Transient neutropenia, Large for gestational age, Macroglossia, Overgrowth, Tall... OMIM:617107
Xylt1-Cdg
Truncal obesity, Acne, Cleft palate, Hepatomegaly ORPHA:370930
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abd... ORPHA:99921
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Myhre Syndrome
Small for gestational age, Obesity, Respiratory insufficiency, Cleft palate, Hypertension, Respir... OMIM:139210
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Gastrointestinal stro... OMIM:115310
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Thrombocytopenia, Leukopenia, F... OMIM:603467
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Myhre Syndrome
Inguinal hernia, Femoral hernia, Precocious puberty, Submucous cleft hard palate, Cleft palate, H... ORPHA:2588
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Microcolon ORPHA:163746
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Roifman-Chitayat Syndrome
Arthritis, Umbilical hernia, Pneumonia OMIM:613328
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, ... OMIM:612132
3Q29 Microduplication Syndrome
Obesity, Cleft palate, Ectopic anus, High palate, Camptodactyly of toe ORPHA:251038
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia, Congenital hypothyroidism OMIM:271510
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J... ORPHA:35909
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... ORPHA:30391
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Hypohidrosis, Pyelonephritis, Hypertension, Multiple lipomas, Supravent... OMIM:181270
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Hypertension, Pulmonary artery hypoplasia, Pulmo... OMIM:245150
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Transient neutropenia, Chronic neutropenia, Large for gestational age, Macroglos... ORPHA:500095
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoventilation, Microvesicul... OMIM:203700
Cornelia De Lange Syndrome 1
Inguinal hernia, Pneumonia, Congenital diaphragmatic hernia, Hiatus hernia, Malrotation of colon,... OMIM:122470
Alkaptonuria
Myocardial infarction, Osteoarthritis, Hypertension, Arthritis, Prostatitis ORPHA:56
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, C... ORPHA:478
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Streak ovary, Increased circulating gonadotropin level, Obesi... ORPHA:1772
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Congenital Disorder Of Glycosylation, Type Iim
Recurrent infections, Hypertension, Gastroesophageal reflux, High palate, Enamel hypoplasia, Neon... OMIM:300896
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Omphalocele, Inguinal hernia, Recurrent respiratory infections, Aganglionic megacol... ORPHA:2273
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Shoulder flexion contracture, Flexion contracture, Elbow flexion contracture, Re... OMIM:210710
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, High palate, Hypertensive crisis ORPHA:1358
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Witteveen-Kolk Syndrome
Hyperactivity, Inguinal hernia, Small for gestational age, Eczema, Decreased response to growth h... OMIM:613406
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Increased body weight ORPHA:64745
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure OMIM:617809
Renal Agenesis
Hypertension, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Rubinstein-Taybi Syndrome 1
Respiratory distress, Premature thelarche, Feeding difficulties in infancy, High, narrow palate, ... OMIM:180849
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatic failure, ... OMIM:276700
Familial Osteodysplasia, Anderson Type
Hypertension, Hyperuricemia ORPHA:2769
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Recurrent otitis media, Obesity OMIM:250420
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Feeding difficulties in infancy, Recurrent pneumoni... ORPHA:314655
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Feeding difficulties, Macroglossia, Cardiomyopathy, Abnormal odontoid tissue ... ORPHA:79255
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Gastroesophageal reflux, Dysphag... ORPHA:73230
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus OMIM:210720
Coffin-Siris Syndrome
Hyperactivity, Aggressive behavior, Recurrent upper respiratory tract infections, Recurrent infec... ORPHA:1465
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue ORPHA:53351
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Hypertension, Neonatal respiratory distress, Congenital diap... OMIM:194080
Generalized Arterial Calcification Of Infancy
Respiratory distress, Transient ischemic attack, Failure to thrive in infancy, Adrenal calcificat... ORPHA:51608
Kabuki Syndrome
Congenital diaphragmatic hernia, Precocious puberty, Obesity, Cleft palate, Recurrent infections,... ORPHA:2322
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal atresia, Anal stenosis, Elevated circulating alpha-fetoprotein concentration, Feeding diffic... ORPHA:280633
Sponastrime Dysplasia
Small for gestational age, Precocious puberty, Recurrent pneumonia, Decreased circulating antibod... ORPHA:93357
Desbuquois Dysplasia 2
Truncal obesity, Neonatal respiratory distress, Bifid uvula, Cleft palate OMIM:615777
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Eczema, Rectal prolapse, Obesity, Pseudohypoparathyroidism, F... OMIM:617157
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Mowat-Wilson Syndrome
Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Flexion contracture, Vomiting, Abnorma... ORPHA:2152
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Aspiration pneumonia, Feeding difficulties ORPHA:95232
Pierson Syndrome
Retinal hemorrhage, Feeding difficulties, Hypertension, Tube feeding, Hypoproteinemia OMIM:609049
Perlman Syndrome
Distal ileal atresia, Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, P... OMIM:267000
Primrose Syndrome
Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circul... OMIM:259050
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Aggressive behavior, Splenomegaly, Jaundice, Abnormal lung ... ORPHA:646
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Tachypnea, Feeding diffic... ORPHA:397715
Aorta Coarctation
Congestive heart failure, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Neurofibromatosis, Type I
Parathyroid adenoma, Hypertension, Overgrowth, Pheochromocytoma OMIM:162200
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Recurrent skin infections, Eczema, Aganglionic megacolon, Keratitis... OMIM:308205
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary cirr... OMIM:613471
Renal Dysplasia
Hypertension, Recurrent urinary tract infections, Abdominal pain, Pyelonephritis ORPHA:93108
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Feeding difficulties in infancy, T... ORPHA:2745
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Uterine prolapse, Apnea, Decreased serum iron, Breathing dysregulation, Abnormal... ORPHA:438213
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Precocious puberty, Gastrointestinal stroma tumor, Abnormal lung morp... ORPHA:97685
Yunis-Varon Syndrome
High, narrow palate, Pyloric stenosis, Renovascular hypertension, Hypertension, Cardiomyopathy, G... ORPHA:3472
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anal stenosis, Anterior pituitary hypoplasia, Pylor... OMIM:181450
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Inguinal hernia, Failure to thrive, Cleft palate, Camptodactyly, Joint contracture o... OMIM:247200
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Chronic constipation, High palate, Recurrent aspiration pneumonia, Bifid uvula OMIM:300472
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Microcolon OMIM:619351
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... OMIM:616268
Adams-Oliver Syndrome 1
Pulmonary artery stenosis, Cleft palate, Hypertension, Pulmonic stenosis, Pulmonary arterial hype... OMIM:100300
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Telangiectasia of the skin, Transient ischemic attack, High, narrow palate, Oste... ORPHA:286
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon OMIM:619362
Cornelia De Lange Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Pyloric... ORPHA:199
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Carpenter Syndrome 2
Tricuspid regurgitation, High, narrow palate, Obesity, Narrow palate, Knee flexion contracture, H... OMIM:614976
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Tricuspid regurgitation, Small for gestational age, Protrudi... OMIM:612289
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Self-injurious behavior, Truncal obesity, High palate, Camptodactyly, Failu... OMIM:612474
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Protruding tongue, Obesity, Macroglossia, Vomiting, Hypogonadism, Gastroesophageal... OMIM:309580
Familial Bicuspid Aortic Valve
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur ORPHA:402075
Retinitis Pigmentosa 74
Obesity OMIM:616562
6Q Terminal Deletion Syndrome
High, narrow palate, Failure to thrive, Obesity ORPHA:75857
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Anteriorly placed anus, Camptodactyly of 2n... OMIM:601803
Kabuki Syndrome 1
Hemolytic anemia, Anal stenosis, Intestinal malrotation, Premature thelarche, Malabsorption, Feed... OMIM:147920
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Cleft palate, Congenital hypothyroidism, Feeding diffi... ORPHA:79500
Yunis-Varon Syndrome
Small for gestational age, Failure to thrive in infancy, Pyloric stenosis, Heart murmur, Feeding ... OMIM:216340

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 Tlr5

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 Tlr5.

No publications found that use IMPC mice or data for Tlr5.

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
Tlr5tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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