Not currently registered for phenotyping at IMPC

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

Gene Summary


IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Smtn 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 Smtn by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension, Abnormal cardiac septum morphology ORPHA:3188
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Impotence, Hypertension, Dysphagia, Raynaud phenomenon, Ischemic stroke OMIM:615750
Mungan Syndrome
Megaduodenum, Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic stenosi... OMIM:611376
Cardiomegaly OMIM:227150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Neoplasm of the heart, Intestinal malrotation, Microco... ORPHA:2241
Hirschsprung Disease
Constipation, Aganglionic megacolon, Nausea and vomiting, Functional abnormality of the gastroint... ORPHA:388
Isolated Agammaglobulinemia
Cellulitis, Sinusitis, Pneumonia, Arthritis, Inflammatory abnormality of the eye, Recurrent respi... ORPHA:229717
Immunodeficiency 70
Achalasia, Colitis, Recurrent sinusitis, Celiac disease, Furuncle OMIM:618969
Recurrent infections, Abnormality of the gastrointestinal tract, Decreased liver function, Chroni... ORPHA:79327
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Constipation, Vomiting, Aganglionic megacolon, Abnormality of the s... ORPHA:95427
Desmoid Tumor
Gastrointestinal hemorrhage, Desmoid tumors, Abdominal pain, Malabsorption, Sepsis, Intestinal po... ORPHA:873
Autosomal Agammaglobulinemia
High palate, Cellulitis, Sinusitis, Recurrent skin infections, Recurrent infections, Arthritis, C... ORPHA:33110
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Achalasia ORPHA:3239
Achalasia-Microcephaly Syndrome
Hirsutism, Achalasia OMIM:200450
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Recurrent upper respiratory tract infections, Achalasia, Inter... OMIM:615952
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Reticular Dysgenesis
Recurrent respiratory infections, Chronic otitis media, Malabsorption, Sepsis, Diarrhea, Skin rash ORPHA:33355
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Achalasia-Microcephaly Syndrome
Achalasia, Growth delay ORPHA:929
Radiation Proctitis
Hematochezia, Rectal fistula, Rectal abscess, Abnormality of gastrointestinal vasculature, Arteri... ORPHA:70475
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Recurrent respiratory infections, Abdominal distention, Recurrent urinary tract ... OMIM:619365
American Trypanosomiasis
Abnormal large intestine physiology, Achalasia, Arrhythmia, Congestive heart failure, Infectious ... ORPHA:3386
X-Linked Agammaglobulinemia
Cellulitis, Recurrent pneumonia, Sinusitis, Arthritis, Chronic diarrhea, Osteomyelitis, Short sta... ORPHA:47
Meckel Diverticulum
Meckel diverticulum OMIM:155140
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Morphological abnormality of the gastrointestinal tract, Esophageal neoplas... ORPHA:1018
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Selective Igm Deficiency
Cellulitis, Hashimoto thyroiditis, Rheumatoid arthritis, Recurrent urinary tract infections, Otit... ORPHA:331235
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Growth delay, Enterocolitis, Perianal abscess, ... OMIM:613148
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Recurrent upper respiratory tract infections, Arthritis, Lymphocytic infiltratio... OMIM:616100
Deafness, Congenital, With Vitiligo And Achalasia
Short stature, Achalasia OMIM:221350
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Growth delay, Recurrent aphthous stomatitis, Inflammation of the large intestine... OMIM:266600
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Tetrasomy 18P
Syncope, Achalasia ORPHA:3307
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thick eyebrow, Short stature, Achalasia ORPHA:436174
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Achalasia OMIM:252320
Mirage Syndrome
Achalasia, Intrauterine growth retardation, Gastroesophageal reflux, Recurrent bacterial infectio... OMIM:617053
Immunodeficiency 59 And Hypoglycemia
High palate, Recurrent upper respiratory tract infections, Recurrent skin infections, Acne invers... OMIM:233600
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Growth delay, Inflammation of the large intestine, Recurrent re... OMIM:615767
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Protracted diarrhea, Growth delay, Malnutrition, Abnormal intestine morphology, Villous atrophy OMIM:251850
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Hypoperistalsis, Transient is... ORPHA:167635
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Triple A Syndrome
Short stature, Achalasia ORPHA:869
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent otitis media, Recurrent pneumonia, Uveitis, Pneumonia, Erythema nodosum, Arthritis, Rec... OMIM:614700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Recurrent otitis media, Cholangitis, Recurrent streptococcal infections, Recurre... ORPHA:183675
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Cyclic Neutropenia
Cellulitis, Sinusitis, Recurrent skin infections, Peritonitis, Periodontitis, Recurrent tonsillit... ORPHA:2686
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Developmental Malformations-Deafness-Dystonia Syndrome
Short stature, Achalasia, Dysphagia, Macroglossia ORPHA:79107
Sinusitis, Abnormal jejunum morphology, Pneumonia, Arthralgia/arthritis, Osteomyelitis, Sepsis, E... ORPHA:449280
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia, Recurrent urinary tract infections, Flexion contracture of finger, Camptodactyly, Join... OMIM:609033
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Bloody mucoid diarrhea, Tenesmus, Ulcer... ORPHA:810
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal inte... OMIM:619079
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement OMIM:611556
Dystonia, Juvenile-Onset
Achalasia, Cleft palate OMIM:607371
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Intrauterine growth retardation, Enamel hypoplasia, Colonic atresi... OMIM:243150
Chronic Diarrhea Due To Glucoamylase Deficiency
Nausea, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphol... ORPHA:103907
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Immunodeficiency 31C
Growth delay, Eczema, Recurrent respiratory infections, Short stature, Abnormal intestine morphol... OMIM:614162
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Hepatomegaly, Right bundle... OMIM:115197
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... OMIM:614022
Thymic Aplasia
Sinusitis, Recurrent Staphylococcus aureus infections, Recurrent streptococcus pneumoniae infecti... ORPHA:83471
Esophagitis, High palate, Recurrent pneumonia, Recurrent skin infections, Eczema, Osteomyelitis, ... ORPHA:443811
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Membranous nephropathy, Hepatitis, Inflammatory abnormality of the skin, Crusting erythematous de... ORPHA:37042
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Junctional Epidermolysis Bullosa Inversa
Nail dystrophy, Atrophic scars, Gastrointestinal inflammation, Enamel hypoplasia ORPHA:79405
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Classic Galactosemia
Decreased fertility in females, Hepatic failure, Primary amenorrhea, Feeding difficulties, Second... ORPHA:79239
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Feingold Syndrome 2
Postnatal growth retardation, Short stature, Intestinal atresia, Ventricular septal defect OMIM:614326
Alpha-Heavy Chain Disease
Growth delay, Abnormality of the small intestine, Abdominal pain, Malabsorption, Alopecia, Premat... ORPHA:100025
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Growth delay, Sepsis OMIM:619599
Fabry Disease
Bundle branch block, Abnormal aortic valve morphology, Telangiectasia of the skin, Hypertension, ... ORPHA:324
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca, Xerostomia, Achalasia OMIM:200400
Chronic Granulomatous Disease
Sinusitis, Inflammatory abnormality of the eye, Tracheoesophageal fistula, Eczema, Recurrent resp... ORPHA:379
Immunodeficiency 46
Chronic diarrhea, Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis, Conjuncti... OMIM:616740
Lassa Fever
Menometrorrhagia, Conjunctivitis, Miscarriage, Abdominal pain, Nausea and vomiting, Dysphagia, Se... ORPHA:99824
Bullous Impetigo
Recurrent bacterial skin infections, Septic arthritis, Sepsis, Pustule ORPHA:36237
Vascular Hyalinosis
Premature graying of hair, Hematochezia, Chorioretinal scar, Malabsorption, Protein-losing entero... OMIM:277175
Specific Granule Deficiency 2
Intractable diarrhea, Amelogenesis imperfecta, Recurrent otitis media, Recurrent pneumonia, Recur... OMIM:617475
Legionnaires Disease
Cellulitis, Arrhythmia, Infectious encephalitis, Endocarditis, Myocarditis, Hypotension, Pancreat... ORPHA:549
Decreased fertility, Hepatic failure, Primary amenorrhea, Feeding difficulties, Secondary amenorr... ORPHA:352
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... ORPHA:615
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Sinus bradycardia, Achalasia, Gastroesophageal reflux, Gastrostomy ... OMIM:619482
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, Abnormal EKG, C... ORPHA:85451
Whim Syndrome
Cellulitis, Tetralogy of Fallot, Recurrent pneumonia, Pneumonia, Sinusitis, Lymphadenitis, Paroti... ORPHA:51636
Ebola Hemorrhagic Fever
Nausea, Acute pancreatitis, Gastrointestinal hemorrhage, Maculopapular exanthema, Abdominal pain,... ORPHA:319218
Felty Syndrome
Cellulitis, Recurrent pneumonia, Sinusitis, Recurrent infections, Episcleritis, Rhinitis, Recurre... ORPHA:47612
Congenital Short Bowel Syndrome
Intestinal malrotation, Decreased intestinal transit time, Abnormal peristalsis, Vomiting, Chroni... OMIM:615237
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Cor pulmonale, Hypertension, Right ventricular hypertrophy OMIM:268500
Bacterial Toxic-Shock Syndrome
Cellulitis, Nausea, Hepatitis, Recurrent urinary tract infections, Fasciitis, Diarrhea, Skin rash... ORPHA:36234
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Growth delay, Chronic diarrhea, Increased fecal bile acid, Steatorrhea OMIM:613291
Immunodeficiency 66
Recurrent skin infections, Sepsis, Pustule OMIM:618847
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Short stature, Nasogastric tube feeding in infancy, Sepsis OMIM:619059
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Third degree atrioventricular block, Hypertension, Villous atrophy, Atrioventric... OMIM:619573
Epidermolysis Bullosa Acquisita
Atypical scarring of skin, Abnormal hair morphology, Nail dystrophy, Inflammation of the large in... ORPHA:46487
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Cellulitis, Pneumonia, Parotitis, Cutaneous abscess, Prostatitis, Osteoarthritis, Hepatitis, Seps... ORPHA:31202
Immunodeficiency 17
Recurrent otitis media, Eczema, Recurrent respiratory infections, Recurrent gastroenteritis, Abno... OMIM:615607
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Stevens-Johnson Syndrome
Abnormal myocardium morphology, Gastrointestinal hemorrhage, Sudden cardiac death, Myocardial inf... ORPHA:36426
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Intermittent diarrhea, Recurrent upper respiratory tract infections, Fatal liver failure in infan... ORPHA:263501
Atresia Of Small Intestine
Intrauterine growth retardation, Intestinal hypoplasia, Intestinal malrotation, Feeding difficult... ORPHA:1201
Alacrima, Achalasia, And Mental Retardation Syndrome
Orthostatic hypotension, Achalasia, Feeding difficulties, Dysphagia, High anterior hairline, Esop... OMIM:615510
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Gastrointestinal hemorrhage, Telangiectasia, Retinal neovascularization, Hypertension,... ORPHA:247691
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Bronchiectasis, Abdominal di... OMIM:619445
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Recurrent infections, Eczema, Thyroiditis, Short stature, Celiac disease, Postnatal growth retard... OMIM:618985
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Toxic Epidermal Necrolysis
Intestinal perforation, Abnormal myocardium morphology, Gastrointestinal hemorrhage, Tracheoesoph... ORPHA:537
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Constipation, Hashimoto thyroiditis, Hypotension, Anorexia, Abdominal pa... ORPHA:199299
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Congestive heart failure, Atrial septal defect, Biventricula... ORPHA:860
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia, Dysphagia OMIM:300858
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Intestinal malrotation, Hypertension, Hyperperistalsis OMIM:613834
Multiple Intestinal Atresia
Duodenal stenosis, Gastrointestinal atresia ORPHA:2300
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Chronic sinusitis, Situs inversus totalis, Duodenal atresia, Reduced prog... OMIM:619608
Galactose Mutarotase Deficiency
Decreased liver function, Sepsis ORPHA:570422
Diarrhea 7, Protein-Losing Enteropathy Type
Vomiting, Diarrhea, Protein-losing enteropathy, Villous atrophy OMIM:615863
Agammaglobulinemia, X-Linked
Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Infectious encephalitis, Prost... OMIM:300755
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Flexion contracture, Coarse hair, Congestive heart failure, Atrial septal de... OMIM:617303
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Cholan... OMIM:209920
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... OMIM:300257
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Nausea, Abnormal peristalsis, Gastroesophageal reflux, Vomiting,... ORPHA:411696
Rat-Bite Fever
Lymphadenitis, Erythema nodosum, Parotitis, Arthritis, Maculopapular exanthema, Endocarditis, Myo... ORPHA:31205
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Pneumonia, Severe recurrent varicella, Recurrent bacterial... ORPHA:276
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis, Villous atrophy OMIM:613217
Recurrent pneumonia, Patent foramen ovale, Intrauterine growth retardation, Chronic rhinitis, Rec... ORPHA:79324
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Congestive heart failure, Pulmonary arterial hypertension, Hyp... ORPHA:1457
Graft Versus Host Disease
Lipodystrophy, Nausea, Myositis, Pneumonia, Recurrent infections, Gastrointestinal inflammation, ... ORPHA:39812
Intellectual Disability-Alacrima-Achalasia Syndrome
Achalasia, Dysphagia ORPHA:289483
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Growth delay, Nail dystrophy, Esophageal stricture, Atrophic scars ORPHA:79409
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Protein-losing enter... OMIM:613502
Achalasia-Addisonianism-Alacrima Syndrome
Short stature, Orthostatic hypotension, Achalasia OMIM:231550
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Growth delay, Nephritis, Hypertension, Sepsis, Epistaxis OMIM:614034
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Sepsis, Growth delay, Pancreatitis ORPHA:289916
Menkes Disease
Feeding difficulties in infancy, Hypopigmentation of hair, Woolly hair, Intrauterine growth retar... ORPHA:565
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Vasculitis, Sepsis, Pancreatitis, Shock ORPHA:70578
Meningococcal Meningitis
Infectious encephalitis, Hypotension, Anorexia, Sepsis, Projectile vomiting, Shock, Skin rash ORPHA:33475
Kid Syndrome
Keratitis, Conjunctivitis, Punctate keratitis, Recurrent skin infections, Acne inversa, Scarring ... ORPHA:477
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Atrial septal defect, Cor triatriatum, Recurrent bacterial infections, Growth delay,... OMIM:612541
Pseudomyxoma Peritonei
Hernia, Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, I... ORPHA:26790
Central Hypoventilation Syndrome, Congenital, 1
Decreased heart rate variability, Aganglionic megacolon, Feeding difficulties, Ineffective esopha... OMIM:209880
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pneumonia, Hypotension, Sepsis, Bradycardia, Tachycardia ORPHA:70587
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Constipation, Gastroesophageal reflux, Colonic div... ORPHA:263665
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy OMIM:619063
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Nausea, Cholangitis, Prostatitis, Hepatitis, Pancreatitis, Keratitis, Glossitis, Infectious encep... ORPHA:2552
Inhalational Anthrax
Hypotension, Internal hemorrhage, Sepsis, Abnormal sweat gland morphology, Vomiting ORPHA:247257
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Cardiomy... OMIM:261740
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Recurrent pneumonia, Acute pancreatitis, Lymphadenitis, Recurrent infections, On... OMIM:618935
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention, Neonatal death, Sepsis OMIM:619362
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Patent foramen ovale, Congestive heart failure, Atrial septal defect, Hernia... ORPHA:505248
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Wiskott-Aldrich Syndrome
Blepharitis, Hematemesis, Otitis media, Keratitis, Intracranial hemorrhage, Conjunctivitis, Arrhy... ORPHA:906
Trichohepatoenteric Syndrome 2
Brittle hair, Intrauterine growth retardation, Woolly hair, Colitis, Sparse hair, Trichorrhexis n... OMIM:614602
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Lamellar Ichthyosis
Aplasia/Hypoplasia of the eyebrow, Erythroderma, Short stature, Recurrent respiratory infections,... ORPHA:313
Acquired Purpura Fulminans
Hepatic failure, Intracranial hemorrhage, Internal hemorrhage, Sepsis, Shock, Skin rash ORPHA:49566
Congenital Contractural Arachnodactyly
High palate, Flexion contracture, Intestinal malrotation, Tracheoesophageal fistula, Congenital c... ORPHA:115
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Flexion contracture, Gastrostomy tube feeding in infancy, Feeding difficulties, Inguinal hernia, ... ORPHA:544503
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Intestinal atresia, Ventricular septal defect, Duodenal atresia ORPHA:3405
Congenital Enterovirus Infection
Hepatic failure, Infectious encephalitis, Hypotension, Myocarditis, Cardiomyopathy, Hepatitis, Se... ORPHA:292
Necrotizing Enterocolitis
Bloody diarrhea, Peritonitis, Hypotension, Abnormal heart morphology, Abdominal distention, Brady... ORPHA:391673
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Recurrent aspiration pneumonia, Sepsis ORPHA:204
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infection... ORPHA:169090
Congenital Disorder Of Glycosylation, Type Ih
Intrauterine growth retardation, Vomiting, Decreased liver function, Abnormal heart morphology, A... OMIM:608104
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Achalasia, Intrauterine growth retardation, Feeding difficulties, Short stature, Esophagitis OMIM:615356
Reticular Dysgenesis
Sepsis OMIM:267500
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurr... ORPHA:293978
Congenital Aortic Valve Stenosis
Abnormal T-wave, Aortic valve atresia, Reduced ejection fraction, Endocardial fibroelastosis, Dys... ORPHA:3093
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis, Recurrent sinopulmonary infections, U... OMIM:618394
Eosinophilic Gastroenteritis
Hematochezia, Abnormality of the gastrointestinal tract, Vomiting, Abdominal pain, Allergic rhini... ORPHA:2070
Sepsis In Premature Infants
Gastrointestinal dysmotility, Hypotension, Decreased liver function, Functional abnormality of th... ORPHA:90051
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Prolonged QT interval, Ventricular septal defect, Brad... OMIM:601005
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Sinusitis, Fat malabsorption, Abnormality of the gastrointesti... ORPHA:811
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Ventricular tachycardia, Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Wiskott-Aldrich Syndrome
Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract infections, Chroni... OMIM:301000
Pericardial And Diaphragmatic Defect
Morphological abnormality of the gastrointestinal tract, Tetralogy of Fallot, Atrial septal defec... ORPHA:2847
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Systemic Sclerosis
Interstitial cardiac fibrosis, Nail bed telangiectasia, Abnormality of the small intestine, Gastr... ORPHA:90291
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent infections, Recurrent skin infections, Erythema nodosum, Colitis, Acne, Inflammation of... OMIM:300635
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Tachycardia, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent pneumonia, Abnormal tongue morphology, Recurrent skin infections, Chronic ... ORPHA:158668
Hematemesis, Diarrhea, Acute infectious pneumonia, Skin rash, Glossitis, Bloody diarrhea, Arrhyth... ORPHA:707
Acute Lung Injury
Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Shock ORPHA:178320
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Recurrent infections, Uveitis, EBV encephalitis, Sepsis OMIM:615122
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Omenn Syndrome
Pneumonia, Aplasia/Hypoplasia of the eyebrow, Chronic diarrhea, Thyroiditis, Erythroderma, Sepsis... ORPHA:39041
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Recurrent skin infections, Sepsis, Epistaxis OMIM:612840
Currarino Syndrome
Rectovaginal fistula, Anal fistula, Anal stenosis, Anal atresia, Abdominal distention, Gastrointe... OMIM:176450
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Recurrent bronchitis, Enterocutaneous fistula, Enterocolitis, P... OMIM:612567
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Interstitial cardiac fibrosis, Uveitis, Abnormality of the small intestine, Episcleritis, Gastroi... ORPHA:801
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Crohn's disease, Wolff-Parkinson-White syndrome, Hypertrophic cardi... OMIM:619705
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Feeding difficulties in infancy, Intestinal malrotation, Abdominal distention, Pyloric stenosis, ... OMIM:300048
Trigonocephaly 1
Omphalocele, Synophrys, Meckel diverticulum OMIM:190440
Mitchell-Riley Syndrome
Intrauterine growth retardation, Intestinal malrotation, Jejunal atresia, Malabsorption, Anterior... OMIM:615710
Martinez-Frias Syndrome
Intrauterine growth retardation, Intestinal hypoplasia, Intestinal malrotation, Tracheoesophageal... OMIM:601346
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Cellulitis, Recurrent otitis media, Recurrent pneumonia, Lymphadenitis, Bronchiectasis, Recurrent... OMIM:618986
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Recurrent skin infections, Pneumonia, Gastrointestinal inflammation, Enam... ORPHA:79404
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczem... OMIM:613960
Neuroleptic Malignant Syndrome
Nausea, Arrhythmia, Pulmonary embolism, Hypotension, Hypertensive crisis, Hypertension, Dysphagia... ORPHA:94093
Avian Influenza
Pneumonia, Congestive heart failure, Infectious encephalitis, Conjunctivitis, Miscarriage, Abdomi... ORPHA:454836
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, ... OMIM:212140
Diverticulosis, Small-Intestinal
Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverticula, Ulcerative colit... OMIM:223320
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Gastrointestinal carcinoma, Anorexia, Nail dystrophy, Hamartomatous polyposis, Abdo... OMIM:175500
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Telangiectasia, Splenomegaly, Hepatomegaly, Cardiomyopathy,... OMIM:235200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent infections, Recurrent skin infections, Smooth tongue, Enamel hypoplasia, Gastrostomy tu... ORPHA:79396
Congenital Tufting Enteropathy
Punctate keratitis, Arthritis, Vomiting, Abnormal small intestinal mucosa morphology, Chronic dia... ORPHA:92050
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recurrent urinary tract infectio... ORPHA:2968
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Diffuse alveolar hemorrhage, Short stature, Enterocolitis, Episo... OMIM:616050
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Congestive heart failure OMIM:269920
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Syst... ORPHA:555874
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent infections, Recurrent upper respiratory tract infections, Recurrent viral infections, C... ORPHA:169154
Nausea, Pyelonephritis, Pneumonia, Congestive heart failure, Peritonitis, Infectious encephalitis... ORPHA:533
Esophageal Atresia
Feeding difficulties in infancy, Morphological abnormality of the gastrointestinal tract, Gastroi... ORPHA:1199
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Pulmonary arterial hyper... OMIM:178600
Caroli Syndrome
Hepatic failure, Portal hypertension, Abdominal rigidity, Cholangitis, Cholangiocarcinoma, Esopha... ORPHA:480520
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:266500
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Sepsis, Shock, Acute infectious pneumonia ORPHA:36238
Linear Iga Dermatosis
Epistaxis, Inflammation of the large intestine ORPHA:46488
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Acne, Pustule, Arthritis ORPHA:69126
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent viral infections, Recurrent bacterial infe... OMIM:243700
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Chronic hepatitis, Recurrent bacterial infections, Hepatitis, Sepsis, Rec... OMIM:308230
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux OMIM:109350
Postinfectious Vasculitis
Viral hepatitis, Gastrointestinal inflammation, Hypertension, Inflammatory abnormality of the ski... ORPHA:48435
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Cardiomegaly, Tricuspid re... OMIM:618652
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Primary amenorrhea, Malabsorption, Villous atrophy, Diarrhea OMIM:600955
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Intestinal malrotation, Dextrocardia, Duodenal stenosis, Cam... ORPHA:1759
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Mitral valv... ORPHA:324410
Inflammatory Bowel Disease 11
Hematochezia, Abdominal pain, Diarrhea, Inflammation of the large intestine OMIM:191390
Immunodeficiency 37
Colitis, Recurrent infections, Infectious encephalitis OMIM:616098
Netherton Syndrome
Recurrent infections, Brittle hair, Sparse eyebrow, Sparse scalp hair, Erythroderma, Allergic rhi... OMIM:256500
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Protein-losing enteropathy, Villous atrophy, Diarrhea, Vomiting OMIM:602579
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Abnormal mitral valve morphology, Gastroparesis, Abdom... ORPHA:1876
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Serkal Syndrome
Malrotation of small bowel, Growth delay, Congenital diaphragmatic hernia, Pulmonic stenosis, Ven... ORPHA:139466
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
Portal hypertension, Gastrointestinal hemorrhage, Decreased liver function, Protein-losing entero... ORPHA:79319
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Hepatic failure, Gastrointestinal inflammation, Ony... ORPHA:186
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Ventricular hypertrophy, Cardiomega... OMIM:619051
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Recurrent infections, Neonatal sepsis, Feeding difficulties OMIM:614739
Cellulitis, Abnormal heart valve morphology, Pneumonia, Lymphadenitis, Cutaneous abscess, Periton... ORPHA:31204
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Immunodeficiency 58
Recurrent pneumonia, Recurrent upper respiratory tract infections, Helicobacter pylori infection,... OMIM:618131
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Sterile arthritis, Colitis, Acne, Cystic acne, Knee flexion contracture, Elbow flexio... OMIM:604416
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease, Hip contracture, Ankle flexion contracture, Knee flexion contracture OMIM:619621
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Recurrent infections, Pneumonia, Pulmonary embolism, Growth delay, Abdominal pain, Malabsorption,... OMIM:226300
Neonatal Alloimmune Neutropenia
Pneumonia, Sepsis, Miscarriage ORPHA:464370
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Anorexia, Abnormal intestine morphology, Secretory diarrhea, Shock, Diarrhea, Vomiting OMIM:600351
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Juvenile Polyposis Of Infancy
Hematochezia, Subcutaneous lipoma, Gastrointestinal hemorrhage, Atrial septal defect, Intussuscep... ORPHA:79076
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Tracheoesophageal fistula, Growth delay, Esophageal atresia, Ven... OMIM:300514
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Immunodeficiency 68
Recurrent skin infections, Lymphadenitis, Sepsis, Septic arthritis OMIM:612260
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
3C Syndrome
Ectopic anus, Tetralogy of Fallot, Feeding difficulties in infancy, Abnormal tricuspid valve morp... ORPHA:7
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hepatomegaly, Cardiomegaly, Myocardial fibrosis OMIM:253250
Ctcf-Related Neurodevelopmental Disorder
Nasogastric tube feeding in infancy, Recurrent infections, Long eyelashes, Atrial septal defect, ... ORPHA:363611
Microvillus Inclusion Disease
Hypovolemia, Abdominal distention, Villous atrophy, Abnormality of small intestinal villus morpho... ORPHA:2290
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatitis, Villous atrophy, Inflammatory abnormality of the skin, Recurrent herpes, Diarrhea, Eso... ORPHA:391487
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Blepharitis, Erythroderma, Villous atrophy, Pustule, Duodenitis OMIM:614328
Cellulitis, Sepsis ORPHA:280062
Immunodeficiency 85 And Autoimmunity
Growth delay, Chronic diarrhea, Eczema, Erythroderma, Oligoarthritis, Recurrent respiratory infec... OMIM:619510
Duodenal Atresia
Duodenal atresia OMIM:223400
Fanconi Anemia, Complementation Group W
Growth delay, Intrauterine growth retardation, Duodenal atresia OMIM:617784
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Submucous clef... OMIM:619227
Congenital Tricuspid Stenosis
Congestive heart failure, Tricuspid stenosis, Hypotension, Pulmonary arterial hypertension, Heart... ORPHA:95459
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Intestinal perforation, Pneumonia, Atypical scarring of skin, Gastrointestinal inflammation, Tric... ORPHA:95455
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Intrauterine growth retardation, Atrial septal defect, Subvalvular aortic s... OMIM:614114
Fryns Syndrome
High palate, Ectopic anus, Tetralogy of Fallot, Intestinal malrotation, Gastroesophageal reflux, ... ORPHA:2059
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, High palate, Primary amenorrhea, Growth delay, Ventricular sep... OMIM:619418
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Colitis, Nail dystrophy, Postnatal growth retardation, Esophagea... OMIM:615190
Immunodeficiency 57 With Autoinflammation
Gastritis, Bronchiectasis, Inflammation of the large intestine, Recurrent respiratory infections,... OMIM:618108
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Duodenal atresia ORPHA:3004
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Growth delay, Adenomatous colonic polyposis, Small intestinal polyposis, Multiple g... ORPHA:329971
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Storm Syndrome
Fat malabsorption, Myxomatous mitral valve degeneration, Sparse eyebrow, Mitral valve prolapse, M... OMIM:185069
Sapho Syndrome
Recurrent skin infections, Chronic diarrhea, Acne, Inflammation of the large intestine, Abdominal... ORPHA:793
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Multiple muscular ventricular septal defects, Esophageal a... ORPHA:391641
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Recurrent infections, Arthritis, Colitis, Inflammation of the large intestine, Eczema, Dysphagia,... OMIM:608809
Focal Dermal Hypoplasia
Hernia, Gastroesophageal reflux, Congenital diaphragmatic hernia, Duodenal atresia, Telangiectasi... ORPHA:2092
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Flexion contracture, Joint contracture of the hand, Villous atrophy, Ar... OMIM:601110
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Patchy alopecia, Recurrent viral infections, Recurrent bacterial infections, Chronic ... OMIM:606367
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Malabsorption, Duodenal ulcer, Steatorrhea ORPHA:3217
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Recurrent otitis media, Hepatitis, Villous atrophy, Diarrhea, Skin r... OMIM:619381
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Colitis, Chronic diarrhea, Inflammation of the large intestine, Recurrent si... OMIM:619281
Sandifer Syndrome
Hiatus hernia, Gastroesophageal reflux, Feeding difficulties, Episodic vomiting, Hematemesis, Eso... ORPHA:71272
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Sickle Cell Anemia
Hypertension, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:603903
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Gastroesophageal reflux, Postnatal growth retardation, Feeding difficulties ORPHA:79350
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Atrial septal defect, Intestinal malrotation, Tracheoesophageal fistula, Aga... ORPHA:210122
Zollinger-Ellison Syndrome
Multiple lipomas, Hematochezia, Nausea, Gastrointestinal hemorrhage, Zollinger-Ellison syndrome, ... ORPHA:913
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Poor suck, Feeding difficulties, Meckel diverticulum, Dysphagia, Nasogastric tube feeding ORPHA:163961
Esophagitis, Eosinophilic, 1
Esophagitis, Dysphagia, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Esophagitis, Dysphagia, Vomiting OMIM:613412
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Crohn's disease, Bronchiectasis OMIM:619632
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Syndromic Diarrhea
Hepatoblastoma, Brittle hair, Woolly hair, Inguinal hernia, Ventricular septal defect, Villous at... ORPHA:84064
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Visceral Myopathy 1
Megaduodenum, Constipation, Aganglionic megacolon, Microcolon, Abdominal pain, Abdominal distenti... OMIM:155310
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula, Inguinal hernia, Femoral hernia OMIM:223330
Hereditary Hyperekplexia
Hiatus hernia, Hernia, Gastroesophageal reflux, Esophagitis, Umbilical hernia ORPHA:3197
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Aortic regurgitation, Arrhythmia, Sacroiliac arthritis, Inflammation of the l... OMIM:106300
Feeding difficulties, Protein-losing enteropathy, Macroglossia ORPHA:79320
Recurrent infections, Myositis, Sudden cardiac death, Sepsis, Recurrent cutaneous abscess formation ORPHA:764
Trichothiodystrophy 3, Photosensitive
Recurrent infections, Brittle hair, Intrauterine growth retardation, Feeding difficulties, Meckel... OMIM:616395
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Refractory Celiac Disease
Chronic diarrhea, Abdominal pain, Malabsorption, Protein-losing enteropathy, Villous atrophy, Inf... ORPHA:398063
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Combined Immunodeficiency-Enteropathy Spectrum
Recurrent abscess formation, Bloody diarrhea, Intrauterine growth retardation, Rectal abscess, Ha... ORPHA:436252
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Heart murmur, Cardiomegaly ORPHA:99931
Hematochezia, Abdominal distention, Enterocolitis, Ulcerative colitis OMIM:226150
Jacobsen Syndrome
Ectopic anus, Feeding difficulties in infancy, Intrauterine growth retardation, Constipation, Int... ORPHA:2308
Cholestasis, Progressive Familial Intrahepatic, 1
Short stature, Fat malabsorption, Diarrhea, Epistaxis OMIM:211600
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Recurrent viral infections, Recurrent mycobacterial infections, Colitis... ORPHA:911
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hypertrophic cardiomyopathy, Sudden cardiac death, Hepatomegaly, Cardi... OMIM:201475
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Juvenile Polyposis Syndrome
Neoplasm of the gastrointestinal tract, Gastrointestinal hemorrhage, Colon cancer, Small intestin... ORPHA:2929
Dyrk1A-Related Intellectual Disability Syndrome
Recurrent infections, Aortic regurgitation, Intrauterine growth retardation, Multiple joint contr... ORPHA:464306
Duodenal Atresia
Duodenal atresia ORPHA:1203
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Glomerulonephritis, Chronic diarrhea, Eczema, Erythroderma, Hepatitis, Villous atrophy, Al... OMIM:304790
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Hepatocellular carcinoma, Fat malabsorption, Diarrhea OMIM:601847
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Arthritis, Orchitis, Peritonitis, Abdominal pain, Pericarditis, Chro... OMIM:249100
Feingold Syndrome
Short stature, Esophageal atresia, Duodenal atresia ORPHA:1305
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Joint contractures involving the joints of the feet, Flexion contracture,... ORPHA:79408
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Shortened PR interval, Hypertrophic cardiomyopathy, Hepatomegaly, Heart murmur, Low-output conges... ORPHA:308552
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Recurrent infections, Aortic regurgitation, Intrauterine growth retardation, Gastroesophageal ref... ORPHA:464311
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Colonic Atresia
Colonic atresia, Omphalocele, Abdominal distention, Duodenal stenosis, Peptic ulcer ORPHA:1198
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Chylomicron Retention Disease
Fat malabsorption, Growth delay, Abdominal distention, Diarrhea, Steatorrhea, Vomiting ORPHA:71
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Cardiomegaly, Telangiectasia of the skin, Lip telangiectasia ORPHA:79280
Plasminogen Deficiency, Type I
Recurrent upper respiratory tract infections, Periodontitis, Nephritis, Conjunctivitis, Duodenal ... OMIM:217090
Miller-Dieker Lissencephaly Syndrome
Intrauterine growth retardation, Duodenal atresia, Inguinal hernia, Abnormal heart morphology, Om... OMIM:247200
Turner Syndrome Due To Structural X Chromosome Anomalies
Recurrent otitis media, Primary amenorrhea, Gastrointestinal inflammation, Hashimoto thyroiditis,... ORPHA:99413
Turner Syndrome
Recurrent otitis media, Primary amenorrhea, Gastrointestinal inflammation, Hashimoto thyroiditis,... ORPHA:881
Mosaic Monosomy X
Recurrent otitis media, Primary amenorrhea, Gastrointestinal inflammation, Hashimoto thyroiditis,... ORPHA:99228
Monosomy X
Recurrent otitis media, Primary amenorrhea, Gastrointestinal inflammation, Hashimoto thyroiditis,... ORPHA:99226
Oculoskeletodental Syndrome
Macroglossia, Short stature, Low anterior hairline, Lacunar stroke, Protein-losing enteropathy, E... OMIM:618440
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia ORPHA:42
Glycogen Storage Disease Ii
Shortened PR interval, Wolff-Parkinson-White syndrome, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Celiac Disease, Susceptibility To, 1
Infertility, Delayed puberty, Enamel hypoplasia, Recurrent aphthous stomatitis, Eczema, Abdominal... OMIM:212750
Pneumonia, Peritonitis, Prostatitis, Osteomyelitis, Sepsis, Vomiting ORPHA:1546
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Microform Holoprosencephaly
Tetralogy of Fallot, Intrauterine growth retardation, Short stature, Cleft palate, Duodenal atresia ORPHA:280200
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Acne, Inflammation of the large intestine, Osteomyelitis, Vasculitis, Psoriasiform dermatitis, Po... ORPHA:324964
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Scarring, Hernia, Severe short stature, Gastroesophageal reflux, Femoral hernia, I... ORPHA:1901
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Reduced ejection fraction, Congestive ... ORPHA:980
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Pyelonephritis, Intrauterine growth retardation, Congestive heart failure, S... ORPHA:90349
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failur... ORPHA:363705
Endove Syndrome, Limb-Only Type
Umbilical hernia, Neonatal sepsis OMIM:619217
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Sclerosing cholangitis, Gastrointestinal hemorrhage, Glomerul... ORPHA:2137
Ventilator-Induced Diaphragmatic Dysfunction
Abdominal symptom, Sepsis ORPHA:505395
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Recurrent otitis media, Recurrent infections, Intrauterine growth retardatio... OMIM:612562
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Right ventricular hypertrophy... ORPHA:268
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, ... ORPHA:90362
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule, Atrophic scars ORPHA:48104
Reactive Arthritis
Aortic regurgitation, Arthritis, Conjunctivitis, Recurrent aphthous stomatitis, Inflammation of t... ORPHA:29207
Symptomatic Form Of Hemochromatosis Type 1
Portal hypertension, Elevated jugular venous pressure, Arrhythmia, Congestive heart failure, Sple... ORPHA:465508
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy ORPHA:158687
Sweet Syndrome
Dilated cardiomyopathy, Recurrent infections, Myositis, Acne inversa, Acne, Small vessel vasculit... ORPHA:3243
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Erysipelas, Atrial septal defect, Mild postnatal growth retardation,... OMIM:235510
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure OMIM:619259
Intestinal malrotation, T-wave inversion, Abnormal EKG, Dextrocardia, Situs inversus totalis, Mec... ORPHA:1666
Fanconi Anemia, Complementation Group F
Pneumonia, Intrauterine growth retardation, Atrial septal defect, Short stature, Duodenal atresia OMIM:603467
Cellulitis, Nausea, Gastrointestinal hemorrhage, Hematemesis, Hepatitis, Pancreatitis, Fasciitis,... ORPHA:73263
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Recurrent infections, Vasculitis, Inflammation of the large intestine OMIM:617718
Localized Scleroderma
Patchy alopecia, Flexion contracture, Uveitis, Arrhythmia, Hashimoto thyroiditis, Gastroesophagea... ORPHA:90289
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Total anomalous pulmonary venous return, Intrauterine growth retardation,... OMIM:270100
Stromme Syndrome
Intestinal malrotation, Jejunal atresia, Cleft palate, Stillbirth, Duodenal atresia OMIM:243605
Diets-Jongmans Syndrome
Feeding difficulties in infancy, Congenital diaphragmatic hernia, Inguinal hernia, Short stature,... OMIM:618846
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Fat malabsorption, Hepatic failure OMIM:214950
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Intrauterine growth retardation, Colon cancer, Atrial septal defect, Subval... ORPHA:1052
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Abnormal left ventricular function, Hype... ORPHA:75249
Immunodeficiency 92
Recurrent oral herpes, Sclerosing cholangitis, Pneumonia, Cholangitis, Chronic diarrhea, Osteomye... OMIM:619652
Arterial Tortuosity Syndrome
Hiatus hernia, Dilated cardiomyopathy, Abnormal myocardium morphology, Cardiac arrest, Congestive... ORPHA:3342
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Patent foramen ovale, Rhizomelia, Meckel diverticulum, Inguinal hernia, Short stature, Ventricula... OMIM:602613
Hermansky-Pudlak Syndrome 1
Hematochezia, Hypopigmentation of hair, Colitis, Albinism, Inflammation of the large intestine, A... OMIM:203300
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Tracheoesop... ORPHA:141127
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Hepatic failure, Giant cell hepatitis, Diarrhea, Steatorrhea OMIM:607765
Holoprosencephaly 13, X-Linked
Median cleft palate, Patent foramen ovale, Gastroesophageal reflux, Double outlet right ventricle... OMIM:301043
Isotretinoin-Like Syndrome
Intrauterine growth retardation, Conotruncal defect, Gastroesophageal reflux, Abnormal cardiac at... ORPHA:2306
Familial Bicuspid Aortic Valve
Aortic regurgitation, Hypoplastic left heart, Hypertension, Bicuspid aortic valve, Heart murmur, ... ORPHA:402075
Fryns Syndrome
Stillbirth, Joint contracture of the hand, Atrial septal defect, Intestinal malrotation, Aganglio... OMIM:229850
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Gastroesophageal reflux, Feeding difficulties, Inguinal hernia, ... ORPHA:79351
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Rectovaginal fistula, Microgastria, Atrial septal defect, Intestinal malrotation, ... ORPHA:2538
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hepatic failure, Inguinal hernia, Abdominal distention, Ventricular septal defect, P... ORPHA:1655
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Hepatic failure, Giant cell hepatitis, Postnatal growth retardation, Steatorrhea ORPHA:79303
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hiatus hernia, High palate, Distal arthrogryposis, Recurrent skin infections, Abnormal duodenum m... OMIM:601776
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hepatic failure, Inguinal hernia, Abdominal distention, Ventricular septal defect, P... OMIM:235255
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Tracheobronchopathia Osteochondroplastica
Esophagitis, Recurrent respiratory infections, Recurrent pneumonia, Pneumonia ORPHA:3348
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Widow's peak, High palate, Patent foramen ovale, Intrauterine growth retardation, Gastroesophagea... OMIM:616975
Fat malabsorption OMIM:200100
Protein-losing enteropathy ORPHA:95428
Sandhoff Disease
Cardiomegaly, Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly OMIM:268800
Menke-Hennekam Syndrome 2
Chronic constipation, Recurrent upper respiratory tract infections, Duodenal ulcer OMIM:618333
Acute Bilirubin Encephalopathy
Neonatal sepsis, Feeding difficulties ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal sepsis, Feeding difficulties ORPHA:529808
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Tetralogy of Fallot, Bifid uvula, Brittle hair, Aortic regurgitation, Intra... OMIM:222470
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Adenomatous colonic polyposis, Duodenal polypo... ORPHA:220460
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Sudden cardiac death, Hepatomegaly, Pulmonary arterial hypertension, Vent... OMIM:614921
Distal Monosomy 12Q
Congenital hypertrophy of left ventricle, Patent foramen ovale, Growth delay, Esophageal atresia,... ORPHA:96149
Congenital Factor Xiii Deficiency
Hepatic failure, Menorrhagia, Inflammation of the large intestine, Joint hemorrhage, Cerebral hem... ORPHA:331
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616897
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Aortic regurgitation, Abnormal left ventricular function, Transient ischemic attack,... ORPHA:91387
Bannayan-Riley-Ruvalcaba syndrome
Multiple lipomas, High palate, Hematochezia, Hashimoto thyroiditis, Supernumerary nipple, Intussu... OMIM:153480
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Meckel diverticulum ORPHA:777
Multiple Endocrine Neoplasia Type 1
Multiple lipomas, Intestinal carcinoid, Nausea, Amenorrhea, Constipation, Zollinger-Ellison syndr... ORPHA:652
Harrod Syndrome
High palate, Malrotation of small bowel, Aganglionic megacolon, High, narrow palate, Pyloric sten... OMIM:601095
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Pneumonia, Vomiting ORPHA:90790
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Recurrent infections, Hepatic failure, Intrauterine growth retardation, Feeding difficulties, Gro... ORPHA:541423
Osteootohepatoenteric Syndrome
Abdominal pain, Episodic vomiting, Increased intestinal transit time, Ileoileal intussusception, ... OMIM:619377
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Delayed puberty, Protuberant abdomen, Periodontitis, Recurrent bacterial ... ORPHA:79259
Lipodystrophy, Right ventricular dilatation, Bifid uvula, Hypertrichosis, Atrial septal defect, R... ORPHA:79328
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption, Short stature, Malnutrition, Postnatal growth retardation, Diarrhea ORPHA:96180
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Pericardial effusion, Protein-losing enteropathy, Secretory diarrhea OMIM:618183
Gardner Syndrome
Keloids, Hepatoblastoma, Gastrointestinal carcinoma, Colon cancer, Ampulla of Vater carcinoma, De... ORPHA:79665
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Aortic regurgitation, A... ORPHA:3384
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Feeding difficulties in infancy, Intrauterine growth retardation, Constipation, Gastroesophageal ... ORPHA:96182
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Intrauterine growth retardation, Severe short stature, Ankle flexion... ORPHA:468631
Rhizomelia, Anal atresia, Congenital diaphragmatic hernia, Omphalocele, Arthrogryposis multiplex ... ORPHA:63259
Apc-Related Attenuated Familial Adenomatous Polyposis
Gastrointestinal carcinoma, Colon cancer, Desmoid tumors, Lipoma, Adenomatous colonic polyposis, ... ORPHA:247806
Coffin-Siris Syndrome 1
Thick eyebrow, Inguinal hernia, Ventricular septal defect, Hypertrichosis, Cleft palate, High pal... OMIM:135900
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Abnormal left ventricula... ORPHA:70591
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Small vessel vasculitis, Infl... OMIM:600903
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Gastrostomy tube feeding in infancy, I... ORPHA:512
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pulmonar... OMIM:602782
Autosomal Dominant Cutis Laxa
Pyelonephritis, Bronchiolitis, Aortic regurgitation, Intrauterine growth retardation, Congestive ... ORPHA:90348
Kindler Epidermolysis Bullosa
Flexion contracture, Atypical scarring of skin, Recurrent skin infections, Colitis, Periodontitis... ORPHA:2908
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Arrhythmia, Hepatomegaly, Heart block, Cardiomyopathy, Cardiomegaly ORPHA:228308
Familial Adenomatous Polyposis 1
Multiple lipomas, Keloids, Hepatoblastoma, Colon cancer, Desmoid tumors, Adenomatous colonic poly... OMIM:175100
Musculocontractural Ehlers-Danlos Syndrome
High palate, Malrotation of small bowel, Abnormal heart valve morphology, Recurrent skin infectio... ORPHA:2953
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Feingold Syndrome 1
High palate, Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia OMIM:164280
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatic failure ORPHA:79302
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Fat malabsorption, Portal hypertension, Gastrointestinal hemorrhage, Recurrent pn... ORPHA:731
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Zollinger-Ellison syndrome, Esophagitis, Peptic ulcer, Diarrhea OMIM:131100
Charge Syndrome
Dysplastic tricuspid valve, Double outlet right ventricle, Dysphagia, Ventricular septal defect, ... OMIM:214800
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Poor suck, Recurrent pneumonia, Nasogastric tube feeding in infancy, Intrauterine growth retardat... ORPHA:99646
Trisomy 8P
Malrotation of small bowel, Tetralogy of Fallot, Bifid uvula, Abnormal left ventricle morphology,... ORPHA:264450
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepato... OMIM:252500
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
High palate, Hepatoblastoma, Early balding, Colon cancer, Desmoid tumors, Adenomatous colonic pol... ORPHA:261584
Familial Adenomatous Polyposis
Colorectal polyposis, Hepatoblastoma, Neoplasm of the gastrointestinal tract, Colon cancer, Chola... ORPHA:733
Fanconi Anemia
Abnormal aortic valve morphology, Decreased fertility in males, Duodenal stenosis, Recurrent urin... ORPHA:84
Tarp Syndrome
Tongue nodules, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal duodenum morpholog... ORPHA:2886
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Arrhythmia, Hepatomegaly, Antenatal intracerebral hemorr... OMIM:608836
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Punctate keratitis, Recurrent infections, Hepatic failure, Ano... OMIM:557000
9Q33.3Q34.11 Microdeletion Syndrome
Constipation, Abnormal hair pattern, Highly arched eyebrow, Dysphagia, Esophagitis, Telangiectasi... ORPHA:495818
Mosaic Trisomy 16
Nasogastric tube feeding in infancy, Abnormality of the gastrointestinal tract, Intrauterine grow... ORPHA:1708
Pitt-Hopkins Syndrome
Hiatus hernia, Constipation, Gastroesophageal reflux, Supernumerary nipple, Aganglionic megacolon... ORPHA:2896
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Recurrent pneumonia, Infertility, Meconium ileus, Recurrent br... OMIM:219721
Kabuki Syndrome 1
High palate, Prominent eyelashes, Recurrent otitis media, Feeding difficulties in infancy, Recurr... OMIM:147920
Townes-Brocks Syndrome 1
Rectovaginal fistula, Tetralogy of Fallot, Anal stenosis, Atrial septal defect, Gastroesophageal ... OMIM:107480
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Periodontitis, Cervicitis, Duodenal ulcer ORPHA:722
Occipital Horn Syndrome
Hiatus hernia, Scarring, Keloids, Poor suck, Coarse hair, Atypical scarring of skin, Gastroesopha... ORPHA:198
Cardiomegaly, Hepatomegaly ORPHA:349
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Glycogen Storage Disease Due To Acid Maltase Deficiency
Shortened PR interval, Hypertrophic cardiomyopathy, Hepatomegaly, Transient ischemic attack, Vasc... ORPHA:365
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Omphalocele, Hypoplasia of the small intestine OMIM:200995
Congenital Tracheomalacia
Tetralogy of Fallot, Atrial septal defect, Partial anomalous pulmonary venous return, Pulmonary a... ORPHA:95430
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:79330
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:230000
Fat malabsorption, Congestive heart failure, Chronic diarrhea, Keratoconjunctivitis sicca, Cardio... ORPHA:14
Viss Syndrome
Bifid uvula, High, narrow palate, Macroglossia, Double outlet right ventricle, Inguinal hernia, A... OMIM:619472
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:608013
Parenteral Nutrition-Associated Cholestasis