Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
smoothelin
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Gastroparesis, Megaduo... OMIM:611376
Ethanolaminosis
Cardiomegaly OMIM:227150
Hirschsprung Disease
Diarrhea, Sepsis, Functional abnormality of the gastrointestinal tract, Nausea and vomiting, Inte... ORPHA:388
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Sepsis, Umbilical hernia, Intestinal malrotation, Nausea and vomiting, Neoplasm of th... ORPHA:2241
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Ischemic stroke, Hypertension, Achalasia, Raynaud phenomenon, Dysphagia OMIM:615750
Immunodeficiency 70
Recurrent sinusitis, Colitis, Achalasia, Celiac disease, Furuncle OMIM:618969
Alg1-Cdg
Protein-losing enteropathy, Sepsis, Decreased liver function, Cardiomyopathy, Abnormal heart morp... ORPHA:79327
Secondary Short Bowel Syndrome
Diarrhea, Sepsis, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal smal... ORPHA:95427
Achalasia-Microcephaly Syndrome
Achalasia, Hirsutism OMIM:200450
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Achalasia ORPHA:3239
Radiation Proctitis
Hematochezia, Diarrhea, Sepsis, Arteritis, Tenesmus, Abnormality of connective tissue, Abnormal r... ORPHA:70475
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Celiac disease, Exocrine pan... OMIM:615952
Achalasia-Microcephaly Syndrome
Achalasia, Growth delay ORPHA:929
Desmoid Tumor
Gastrointestinal hemorrhage, Sepsis, Malabsorption, Intestinal polyposis, Intestinal obstruction,... ORPHA:873
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Recurrent respiratory infections, Abdominal distention, Recurrent urinary tract ... OMIM:619365
American Trypanosomiasis
Diarrhea, Cardiomyopathy, Congestive heart failure, Skin rash, Infectious encephalitis, Aganglion... ORPHA:3386
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Vomiting, Keratitis, Nasogastric tube feeding, Aspiration pneumonia, Abn... ORPHA:1018
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent upper respiratory t... ORPHA:436159
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Hypertension, Left atrial enlargement... OMIM:620734
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Netherton Syndrome
Allergic rhinitis, Brittle scalp hair, Sepsis, Sparse eyebrow, Eczematoid dermatitis, Villous atr... OMIM:256500
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis, ... OMIM:613148
Autosomal Agammaglobulinemia
Cellulitis, Diarrhea, Sepsis, Bronchiectasis, Recurrent respiratory infections, Hepatitis, Osteom... ORPHA:33110
Deafness, Congenital, With Vitiligo And Achalasia
Short stature, Achalasia OMIM:221350
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Highly arched eyebrow, Sparse eyebrow, Gastroesophageal reflux, High anterior hairline, Secundum ... OMIM:600987
Isolated Agammaglobulinemia
Cellulitis, Pneumonia, Diarrhea, Sepsis, Malabsorption, Otitis media, Skin rash, Inflammatory abn... ORPHA:229717
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Recurrent viral infections, Sepsis, Ec... OMIM:243700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Diarrhea, Sepsis, Eczematoid de... OMIM:616100
Tetrasomy 18P
Syncope, Achalasia ORPHA:3307
Autoinflammatory Disease, Familial, Behcet-Like 3
Recurrent infections, Ileitis OMIM:618287
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Thick eyebrow, Achalasia ORPHA:436174
Mirage Syndrome
Sepsis, Gastroesophageal reflux, Recurrent urinary tract infections, Aspiration pneumonia, Intrau... OMIM:617053
Selective Igm Deficiency
Cellulitis, Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Recurrent bro... ORPHA:331235
Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypertension, Pulmonary arterial hypertension, Atrial septal defect, Hypo... OMIM:613834
Scleromyxedema
Gastroesophageal reflux, Transient ischemic attack, Abnormality of the gastrointestinal tract, Dy... ORPHA:167635
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Recurrent pneumonia, Sepsis, Inflammation of the large intestine, ... OMIM:614700
Triple A Syndrome
Short stature, Achalasia ORPHA:869
X-Linked Agammaglobulinemia
Cellulitis, Recurrent pneumonia, Sepsis, Alopecia, Hepatitis, Osteomyelitis, Malabsorption, Skin ... ORPHA:47
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Sepsis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, S... ORPHA:449280
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Mucoid diarrhea, Crohn's disease, Recurrent respiratory infe... OMIM:615767
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Posterior Column Ataxia With Retinitis Pigmentosa
Joint contracture of the hand, Recurrent urinary tract infections, Flexion contracture of finger,... OMIM:609033
Cyclic Neutropenia
Cellulitis, Recurrent tonsillitis, Sepsis, Periodontitis, Otitis media, Peritonitis, Enterocoliti... ORPHA:2686
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Intrauteri... OMIM:243150
Shigellosis
Anorexia, Abdominal pain, Intestinal perforation, Bloody mucoid diarrhea, Paralytic ileus, Perito... ORPHA:810
C1Q Deficiency 2
Discoid lupus rash, Sepsis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Vasculitis... OMIM:620321
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Developmental Malformations-Deafness-Dystonia Syndrome
Short stature, Macroglossia, Achalasia, Dysphagia ORPHA:79107
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea, Villous atrophy, Abnormal intestine morphology, Growth delay OMIM:251850
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Classic Galactosemia
Hepatic failure, Diarrhea, Vomiting, Sepsis, Male infertility, Decreased fertility in females, De... ORPHA:79239
Dystonia-Deafness Syndrome 1
Achalasia, Dysphagia, Cleft palate, Pseudobulbar paralysis OMIM:607371
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ... ORPHA:183675
Junctional Epidermolysis Bullosa Inversa
Atrophic scars, Enamel hypoplasia, Nail dystrophy, Gastrointestinal inflammation ORPHA:79405
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic diarrhea, Chronic oral candid... OMIM:616740
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Intestinal atresia, Ventricular septal defect OMIM:614326
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Lassa Fever
Menometrorrhagia, Diarrhea, Sepsis, Shock, Nausea and vomiting, Conjunctivitis, Abdominal pain, D... ORPHA:99824
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Growth delay OMIM:619599
Reticular Dysgenesis
Diarrhea, Sepsis, Malabsorption, Skin rash, Recurrent respiratory infections, Chronic otitis media ORPHA:33355
Bullous Impetigo
Pustule, Sepsis, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Pgm3-Cdg
Allergic rhinitis, Recurrent viral infections, Esophagitis, Lactose intolerance, High palate, Rec... ORPHA:443811
Achalasia, Familial Esophageal
Rheumatoid arthritis, Xerostomia, Achalasia, Keratoconjunctivitis sicca OMIM:200400
Legionnaires Disease
Cellulitis, Hypotension, Diarrhea, Sepsis, Hepatitis, Anorexia, Nausea and vomiting, Infectious e... ORPHA:549
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... OMIM:615237
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Sepsis, Vomiting, Hepatitis, Nausea, M... ORPHA:319218
Cog4-Cdg
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... ORPHA:263501
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Vascular Hyalinosis
Chorioretinal scar, Protein-losing enteropathy, Diarrhea, Hematochezia, Premature graying of hair... OMIM:277175
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Intractable diarrhea, Recurrent otitis media, Hirsutism, Amelogenesi... OMIM:617475
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive... OMIM:614096
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Sepsis, Arteritis, High anterior hairline, Herpes s... OMIM:233600
Immunodeficiency 66
Pustule, Sepsis, Recurrent skin infections OMIM:618847
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Sepsis, Abnormal heart morphology, Neonatal death, Abdominal distention OMIM:619362
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Biventricular hypertrophy, Atrial septal defect, Atrophic gastritis, ... OMIM:619573
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Bacterial Toxic-Shock Syndrome
Cellulitis, Diarrhea, Glomerulonephritis, Abdominal pain, Tachycardia, Recurrent skin infections,... ORPHA:36234
Alpha-Heavy Chain Disease
Alopecia, Malabsorption, Abnormal small intestine morphology, Abdominal pain, Growth delay ORPHA:100025
Epidermolysis Bullosa Acquisita
Atypical scarring of skin, Inflammation of the large intestine, Abnormal hair morphology, Nail dy... ORPHA:46487
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Short stature, Nasogastric tube feeding in infancy, Pulmonary arterial hypertension, Sepsis OMIM:619059
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Sepsis, Acute hepatic failure, Nausea and vomiting, Pancre... ORPHA:36426
Whim Syndrome
Cellulitis, Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia,... ORPHA:51636
Developmental And Epileptic Encephalopathy 111
Hypoplastic left heart, Sepsis, Sinus tachycardia, Umbilical hernia, Biventricular hypertrophy, L... OMIM:620504
Felty Syndrome
Cellulitis, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recurrent urinary trac... ORPHA:47612
Fabry Disease
Nausea and vomiting, Mitral regurgitation, Arrhythmia, Achalasia, Anorexia, Abdominal pain, Hyper... ORPHA:324
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
High anterior hairline, Achalasia, Orthostatic hypotension, Esophageal stenosis, Dysphagia, Feedi... OMIM:615510
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Vomiting, Diarrhea, Abdominal colic, Villous atrophy OMIM:615863
Late-Onset Isolated Acth Deficiency
Hypotension, Diarrhea, Sepsis, Hepatitis, Celiac disease, Nausea and vomiting, Premature ovarian ... ORPHA:199299
T-Cell Immunodeficiency With Thymic Aplasia
Thyroiditis, Pneumonia, Sepsis, Diarrhea, Eczematoid dermatitis, Recurrent urinary tract infectio... ORPHA:83471
Small Bowel Atresia
Vomiting, Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Intestinal hy... ORPHA:1201
Melioidosis
Cellulitis, Pneumonia, Sepsis, Foot osteomyelitis, Cutaneous abscess, Parotitis, Shock, Hepatitis... ORPHA:31202
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Chronic consti... OMIM:619482
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Chilblains, Lipodystrophy, Membranoproliferative glomerulonephritis, Chr... OMIM:619858
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Gastrointestinal hemorrhage, Sepsis, Cardiomyopathy, Punctate vasculitis skin lesions,... ORPHA:247691
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Arthritis, Crypt hyperplasia OMIM:613217
Chronic Granulomatous Disease
Sepsis, Eczematoid dermatitis, Malabsorption, Otitis media, Tracheoesophageal fistula, Sinusitis,... ORPHA:379
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Sepsis, Acute hepatic failure, Malabsorption, Nausea and vomiting, T... ORPHA:537
Bile Acid Malabsorption, Primary, 1
Growth delay, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczematoid dermatitis, Postnatal growth retardation, Delayed puberty, Short stature, Celiac disea... OMIM:618985
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Alg12-Cdg
Recurrent pneumonia, Sepsis, Gastroesophageal reflux, Intestinal malrotation, Biventricular hyper... ORPHA:79324
Galactose Mutarotase Deficiency
Sepsis, Decreased liver function ORPHA:570422
Intellectual Disability-Alacrima-Achalasia Syndrome
Achalasia, Dysphagia ORPHA:289483
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Recur... OMIM:613502
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Recurrent upper respiratory tract infections, Sepsis, Secundum atrial septal def... OMIM:612541
Graft Versus Host Disease
Pneumonia, Diarrhea, Vomiting, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, ... ORPHA:39812
Recessive Dystrophic Epidermolysis Bullosa Inversa
Atrophic scars, Nail dystrophy, Gastrointestinal inflammation, Growth delay, Esophageal stricture ORPHA:79409
Agammaglobulinemia, X-Linked
Cor pulmonale, Recurrent pneumonia, Sepsis, Bronchiectasis, Conjunctivitis, Enteroviral dermatomy... OMIM:300755
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Intestinal malrotation, Situs inversus totalis, Partial atrioventricular canal ... OMIM:619608
Inhalational Anthrax
Abnormal sweat gland morphology, Hypotension, Vomiting, Sepsis, Internal hemorrhage ORPHA:247257
Mucopolysaccharidosis-Plus Syndrome
Nephritis, Recurrent pneumonia, Sepsis, Coarse hair, Recurrent respiratory infections, Congestive... OMIM:617303
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Sepsis, Nausea and vomiting, Growth delay ORPHA:289916
Glucocorticoid Deficiency 2
Recurrent pneumonia, Achalasia OMIM:607398
Kid Syndrome
Posterior blepharitis, Postnatal growth retardation, Psoriasiform dermatitis, Sparse eyelashes, R... ORPHA:477
Rat-Bite Fever
Diarrhea, Vomiting, Sepsis, Lymphadenitis, Parotitis, Septic arthritis, Morbilliform rash, Skin r... ORPHA:31205
Achalasia-Addisonianism-Alacrima Syndrome
Short stature, Achalasia, Orthostatic hypotension OMIM:231550
Meningococcal Meningitis
Hypotension, Sepsis, Shock, Skin rash, Infectious encephalitis, Anorexia, Projectile vomiting ORPHA:33475
Cirrhotic Cardiomyopathy
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... ORPHA:57777
Neonatal Alloimmune Neutropenia
Pneumonia, Sepsis ORPHA:464370
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia OMIM:300858
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Acute infectio... ORPHA:707
Central Hypoventilation Syndrome, Congenital, 1
Ineffective esophageal peristalsis, Decreased heart rate variability, Chronic constipation, Agang... OMIM:209880
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Sepsis, Shock, Pancreatitis ORPHA:70578
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Hernia, Constip... ORPHA:26790
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Recurrent respiratory infections OMIM:619063
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Sepsis, Bradycardia, Cardiac arrest, Tachycardia ORPHA:70587
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Thick eyebrow, Telangiectasia of the skin, Achalasia, Keratoconjunctivitis sicca, Short stature, ... OMIM:616007
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Arrhythmia, Chronic otitis media, Vasculitis, Eczematoid der... ORPHA:906
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Sepsis, Diarrhea, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Skin ... ORPHA:276
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Sepsis, Growth delay, Nephritis, Hypertension OMIM:614034
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent viral infections, Gastroesophageal reflux, Eosinophilic infiltration... OMIM:620532
Acquired Purpura Fulminans
Hepatic failure, Sepsis, Shock, Skin rash, Internal hemorrhage, Intracranial hemorrhage ORPHA:49566
Microsporidiosis
Lymphadenitis, Keratoconjunctivitis, Prostatitis, Anorexia, Abdominal pain, Endocarditis, Osteomy... ORPHA:2552
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Intestinal atresia, Duodenal atresia, Ventricular septal defect ORPHA:3405
Immunodeficiency 102
Recurrent upper respiratory tract infections, Sepsis, Recurrent sinusitis, Chronic sinusitis, Chr... OMIM:301082
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Intrauterine growth retardation, Esophagitis, Achalasia, Short stature, Feeding difficulties OMIM:615356
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Sepsis, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Long eyel... ORPHA:505248
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Sepsis, Inguinal hernia, Gastrostomy tube feeding in infancy, Flexion contracture, Feeding diffic... ORPHA:544503
Lamellar Ichthyosis
Sepsis, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Short stature, Recurrent respiratory inf... ORPHA:313
Congenital Contractural Arachnodactyly
Congenital contracture, Camptodactyly of finger, Intestinal malrotation, Mitral valve prolapse, T... ORPHA:115
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Sepsis, Abnormality of the hairline, Double outlet right ventricle, Atrial septa... OMIM:614886
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Necrotizing Enterocolitis
Hypotension, Diarrhea, Vomiting, Hypoactive bowel sounds, Shock, Abnormal heart morphology, Brady... ORPHA:391673
Reticular Dysgenesis
Sepsis OMIM:267500
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Anal fissure, C... OMIM:618935
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Recurrent infections, Sepsis ORPHA:204
Sepsis In Premature Infants
Hypotension, Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastroin... ORPHA:90051
Congenital Enterovirus Infection
Hypotension, Hepatic failure, Sepsis, Hepatitis, Cardiomyopathy, Skin rash, Infectious encephalit... ORPHA:292
Avian Influenza
Pneumonia, Myelitis, Diarrhea, Vomiting, Sepsis, Hepatitis, Congestive heart failure, Infectious ... ORPHA:454836
Currarino Syndrome
Anal stenosis, Sepsis, Recurrent urinary tract infections, Chronic constipation, Anal fistula, Pe... OMIM:176450
Ectodermal Dysplasia-Skin Fragility Syndrome
Sparse hair, Alopecia universalis, Recurrent pneumonia, Sepsis, Anoperineal fistula, Cheilitis, C... ORPHA:158668
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal heart morphology, Tetralogy of Fallot, Palp... ORPHA:2847
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Recurrent respiratory infections, E... OMIM:300635
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Crohn's disease, Recurrent sinopulmonary infections, Colitis, Chronic diarrhea, U... OMIM:618394
Generalized Pustular Psoriasis
Sepsis, Congestive heart failure, Palmoplantar pustulosis, Pustule, Erythroderma, Geographic tong... ORPHA:247353
Systemic Sclerosis
Intestinal bleeding, Telangiectasia, Glomerulonephritis, Recurrent skin infections, Dysphagia, Bo... ORPHA:90291
Eosinophilic Gastroenteritis
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... ORPHA:2070
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Amelogenesis i... ORPHA:169090
Shwachman-Diamond Syndrome
Pneumonia, Recurrent viral infections, Sepsis, Growth delay, Eczematoid dermatitis, Malnutrition,... ORPHA:811
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Shock, Acute pancreatitis ORPHA:178320
Omenn Syndrome
Pneumonia, Alopecia, Sepsis, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Chronic diarrhea, T... ORPHA:39041
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Chylomicron Retention Disease
Diarrhea, Vomiting, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Stea... OMIM:246700
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Sepsis, EBV encephalitis, Recurrent infections, Uveitis OMIM:615122
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Immunodeficiency 10
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Amelogen... OMIM:612783
Wiskott-Aldrich Syndrome
Epistaxis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Diarrhea, I... OMIM:301000
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Intrauterine growt... OMIM:615710
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Sepsis, Gastrointestinal hemorrhage, Umbilical hern... ORPHA:565
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Epistaxis, Sepsis, Recurrent skin infections OMIM:612840
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Alopecia, Sepsis, Vomiting, Dilated cardiomyopathy, Recurrent urinary tract infections... ORPHA:79404
Martinez-Frias Syndrome
Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Tracheoesophageal fistu... OMIM:601346
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Crohn's disea... OMIM:619705
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Entero... OMIM:612567
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Growth delay, I... ORPHA:1199
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Cellulitis, Recurrent pneumonia, Sepsis, Lymphadenitis, Recurrent otitis media, Recurrent sinusit... OMIM:618986
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Vomiting, Sepsis, Pulmonary embolism, Nasogastric tube feeding,... ORPHA:94093
Trichohepatoenteric Syndrome 2
Sparse hair, Diarrhea, Trichorrhexis nodosa, Intrauterine growth retardation, Villous atrophy, Ch... OMIM:614602
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Sepsis, Shock, Acute infectious pneumonia ORPHA:36238
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se... ORPHA:293978
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Alopecia, Recurrent can... ORPHA:169154
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Sepsis, Smooth tongue, Atrophic scars, Nail dystrophy, Gastrostomy tube feeding in infa... ORPHA:79396
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Diarrhea, Hepatitis, Enteroviral encephalitis, Sclerosing cholangitis, Chronic hepatitis,... OMIM:308230
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... OMIM:175500
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly, Congestive heart failure OMIM:269920
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Vomiting, Diarrhea, Decreased liver function, Intrauterine growth ret... OMIM:608104
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention ORPHA:103910
Caroli Syndrome
Hepatic failure, Sepsis, Portal hypertension, Abdominal rigidity, Hematemesis, Cholangiocarcinoma... ORPHA:480520
Linear Iga Dermatosis
Epistaxis, Inflammation of the large intestine ORPHA:46488
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Malab... ORPHA:92050
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Abnormal tricuspid valve morp... ORPHA:1759
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Recurrent otitis media, Situs inversus totalis, Rec... OMIM:615482
Papa Syndrome
Crohn's disease, Increased inflammatory response, Pustule, Myositis, Arthritis, Acne ORPHA:69126
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Splenomegaly, Cardiomegaly, Telangiectasia, Arrhythmia,... OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Liver Disease, Severe Congenital
Diarrhea, Dry hair, Recurrent otitis media, Dilatation of the ventricular cavity, Ventricular sep... OMIM:619991
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver func... ORPHA:79319
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Recurrent infections, Feeding difficulties OMIM:614739
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Glomerulonephritis, Anorexia, Abdominal pain, Recurrent myc... ORPHA:48435
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Serkal Syndrome
Malrotation of small bowel, Congenital diaphragmatic hernia, Ventricular septal defect, Growth de... ORPHA:139466
Listeriosis
Pneumonia, Diarrhea, Sepsis, Vomiting, Arteritis, Congestive heart failure, Conjunctivitis, Osteo... ORPHA:533
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Growth delay, Chronic mucocutaneous candidiasis, Recurrent ... OMIM:614162
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Vomiting, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Malabs... OMIM:226300
Nocardiosis
Cellulitis, Pneumonia, Vomiting, Sepsis, Lymphadenitis, Cutaneous abscess, Keratitis, Abnormal he... ORPHA:31204
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia OMIM:614702
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Diarrhea, Gastrointestinal ... ORPHA:79076
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti... OMIM:618131
Fanconi Anemia, Complementation Group B
Hypogonadism, Intrauterine growth retardation, Ventricular septal defect, Tracheoesophageal fistu... OMIM:300514
Fanconi Anemia, Complementation Group W
Intrauterine growth retardation, Growth delay, Duodenal atresia OMIM:617784
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
Refsum Disease, Classic
Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Glomerulonephritis, Recurrent skin infections, Vaginitis, Ost... ORPHA:2968
Immunodeficiency 68
Septic arthritis, Recurrent skin infections, Sepsis, Lymphadenitis OMIM:612260
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Villous atrophy, Duodenitis, Pustule, Erythroderma, Bloody diarrhea OMIM:614328
Ctcf-Related Neurodevelopmental Disorder
Highly arched eyebrow, Sepsis, Gastroesophageal reflux, Hypertrichosis, Pulmonary hemorrhage, Lon... ORPHA:363611
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Nail dystrophy, Colitis, Esophagea... OMIM:615190
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Trichiasis, Atypical scarring of skin, Diarrhea, Sepsis, Xerostomia, Oral-pharyngeal d... ORPHA:95455
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... OMIM:261740
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Omphalocele, Synophrys OMIM:190440
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Duodenal Atresia
Duodenal atresia OMIM:223400
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Blepharitis, Secundum atrial septal defect,... ORPHA:870
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Hypertrichosis, Muscular ventricular septal defect, Submucous cleft hard palate, Low posterior ha... OMIM:619227
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Vomiting, Sepsis, Exocrine pancreatic insufficiency, Ventricular septal defect, Primary amenorrhe... OMIM:619418
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Rhizomelia, Intrauterine growth retardation, Ventricular septal defect, Sub... OMIM:614114
Cat Eye Syndrome
Hypoplastic left heart, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticul... OMIM:115470
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi... OMIM:300280
Spastic Paraplegia 84, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Hip contracture, Crohn's disease OMIM:619621
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Abdominal pain, R... OMIM:619381
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Duodenal atresia ORPHA:3004
Fryns Syndrome
Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallot, Congenital diaphragmatic he... ORPHA:2059
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Alopecia of scalp, Otitis media,... OMIM:602450
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Frontal upsweep of hair, Ventricular septal defect, Gastrointestinal dysm... OMIM:617798
Calciphylaxis
Cellulitis, Sepsis ORPHA:280062
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Recurrent ... OMIM:618108
Primary Biliary Cholangitis
Hepatic failure, Hepatitis, Portal hypertension, Recurrent fungal infections, Onychomycosis, Orth... ORPHA:186
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... ORPHA:71272
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Interstitial pneumonitis ORPHA:231154
Focal Dermal Hypoplasia
Alopecia, Gastroesophageal reflux, Camptodactyly of finger, Umbilical hernia, Abnormal dental ena... ORPHA:2092
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun... ORPHA:3427
Feingold Syndrome Type 1
Nephritis, Tricuspid stenosis, Abnormal heart morphology, Multiple muscular ventricular septal de... ORPHA:391641
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Villous atrophy, Steatorrhea OMIM:602579
Immunodeficiency 85 And Autoimmunity
Vomiting, Eczematoid dermatitis, Villous atrophy, Oligoarthritis, Erythroderma, Tube feeding, Rec... OMIM:619510
Alg6-Cdg
Protein-losing enteropathy, Macroglossia, Feeding difficulties ORPHA:79320
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Hereditary Hyperekplexia
Gastroesophageal reflux, Umbilical hernia, Esophagitis, Hernia, Hiatus hernia ORPHA:3197
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Inflammation of the large intestine, Recurrent sinusitis, Colitis, Chronic d... OMIM:619281
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Intestinal malrotatio... ORPHA:210122
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Feeding difficulties, Synophrys OMIM:618154
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Trichorrhexis nodosa, Intrauterine growth retardation, Tiger tail banding, B... OMIM:616395
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ... OMIM:265380
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Abnormal intestine morphology, Eczematoid dermati... ORPHA:391487
Microvillus Inclusion Disease
Diarrhea, Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Hyp... ORPHA:2290
Proprotein Convertase 1/3 Deficiency
Diarrhea, Villous atrophy, Malabsorption, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:600955
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur ORPHA:99931
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Combined Immunodeficiency-Enteropathy Spectrum
Jejunoileal ulceration, Rectal abscess, Hepatitis, Intestinal malrotation, Intrauterine growth re... ORPHA:436252
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest OMIM:617713
Pyomyositis
Sepsis, Myositis, Recurrent infections, Sudden cardiac death, Recurrent cutaneous abscess formation ORPHA:764
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Peptic ulcer, Esophagitis, Intestinal obstru... ORPHA:913
Juvenile Polyposis Syndrome
Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal... ORPHA:2929
Duodenal Atresia
Duodenal atresia ORPHA:1203
Refractory Celiac Disease
Protein-losing enteropathy, Inflammatory abnormality of the skin, Jejunitis, Malnutrition, Villou... ORPHA:398063
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cellulitis, Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Vasculitis, B... OMIM:617718
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastroesophageal reflux, Vomiting, Eczematoid dermat... ORPHA:464306
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastroesophageal reflux, Foot joint contracture, Growth delay, Dilated cardiomyopathy, Malnutriti... ORPHA:79408
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Intestinal malrotation, Atri... OMIM:270100
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventricular hypertrophy, L... ORPHA:308552
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Abdominal distention ORPHA:1198
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Nasogastric tube feeding, Dysphagia, Feeding difficulties, Poor suck ORPHA:163961
Celiac Disease, Susceptibility To, 1
Alopecia, Diarrhea, Vomiting, Eczematoid dermatitis, Celiac disease, Postnatal growth retardation... OMIM:212750
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Hepatomega... OMIM:201475
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Eczematoid dermatitis, Intestinal malrotation, Int... ORPHA:2308
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Gastro... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Gastro... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Gastro... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Gastro... ORPHA:99226
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Alopecia universalis, Recurrent viral infections, Eczematoid dermatitis, Villous atro... OMIM:606367
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Gastroesophageal reflux, ... ORPHA:464311
Feingold Syndrome
Short stature, Esophageal atresia, Duodenal atresia ORPHA:1305
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Oculoskeletodental Syndrome
Protein-losing enteropathy, Elbow flexion contracture, Low anterior hairline, Lacunar stroke, Low... OMIM:618440
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Chronic constipation, Crohn's disease, Orchitis, Episodic abdomin... OMIM:249100
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit... OMIM:106300
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Abnormal heart morphology, Intrauterine growth retardation, Inguin... OMIM:247200
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Atrial septal defect, Brittle h... ORPHA:84064
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Fat malabsorption, Steatorrhea ORPHA:309108
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia ORPHA:42
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Intrauterine growth retardation, Feeding difficulties in infancy, P... OMIM:257300
Dermatosparaxis Ehlers-Danlos Syndrome
Severe short stature, Gastroesophageal reflux, Abnormality of subcutaneous fat tissue, Esophagiti... ORPHA:1901
Cryptococcosis
Pneumonia, Vomiting, Sepsis, Osteomyelitis, Peritonitis, Prostatitis ORPHA:1546
Microform Holoprosencephaly
Tetralogy of Fallot, Intrauterine growth retardation, Short stature, Duodenal atresia, Cleft palate ORPHA:280200
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Small bowel diverticula, Recurrent urinary tract infections, Congestive hear... ORPHA:90349
Sapho Syndrome
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Malabsorption, Psoriasiform derma... ORPHA:793
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Eczemat... OMIM:615895
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Plasminogen Deficiency, Type I
Nephritis, Recurrent upper respiratory tract infections, Periodontitis, Conjunctivitis, Duodenal ... OMIM:217090
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Endove Syndrome, Limb-Only Type
Neonatal sepsis, Umbilical hernia OMIM:619217
Zygomycosis
Cellulitis, Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endo... ORPHA:73263
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Recurrent otitis media, Tetralogy of Fallot, Intrauterine growth r... OMIM:612562
Ventilator-Induced Diaphragmatic Dysfunction
Sepsis, Abdominal symptom ORPHA:505395
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Viral hepati... ORPHA:2137
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly OMIM:603903
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced... ORPHA:980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Cardiomegaly, Right bundle branch block... ORPHA:268
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Bronchiectasis, Crohn's disease OMIM:619632
Dextrocardia
Meckel diverticulum, Abnormal EKG, Intestinal malrotation, Abnormal heart morphology, Situs inver... ORPHA:1666
Stromme Syndrome
Intestinal malrotation, Jejunal atresia, Stillbirth, Duodenal atresia, Cleft palate OMIM:243605
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Sparse scalp hair, Oral leukoplakia, Intrauterine growth ret... OMIM:620133
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Joint contracture of the hand, Pericardial lymphangiectasia, Erysipel... OMIM:235510
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Localized Scleroderma
Vasculitis, Gastroesophageal reflux, Fasciitis, Esophagitis, Hashimoto thyroiditis, Progressive l... ORPHA:90289
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy ORPHA:158687
Fanconi Anemia, Complementation Group F
Pneumonia, Intrauterine growth retardation, Atrial septal defect, Short stature, Duodenal atresia OMIM:603467
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Malabsorption, Psoriasiform dermatitis, Recurrent s... OMIM:615508
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Atrophic scars, Myositis, Pustule ORPHA:48104
Sweet Syndrome
Inflammation of the large intestine, Dilated cardiomyopathy, Acne inversa, Predominantly dermal n... ORPHA:3243
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Intrauterine growth retardation, Stomach cancer, Intestinal polyposis, Subv... ORPHA:1052
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure OMIM:619259
Arterial Tortuosity Syndrome
Gastroesophageal reflux, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyo... ORPHA:3342
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Tru... ORPHA:2538
Fryns Syndrome
Joint contracture of the hand, Meckel diverticulum, Intestinal malrotation, Facial hirsutism, Ven... OMIM:229850
Reactive Arthritis
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infe... ORPHA:29207
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Hypertrichosis, Postnatal growth retardation, Inguin... ORPHA:1655
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Aortic regurgitation, ... ORPHA:402075
Congenital Tracheal Stenosis
Hypoplastic left heart, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abno... ORPHA:141127
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Diets-Jongmans Syndrome
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Fe... OMIM:618846
Tarp Syndrome
Hepatic failure, Meckel diverticulum, Subdural hemorrhage, Tetralogy of Fallot, Intrauterine grow... OMIM:311900
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Gastroesophageal reflux, Postnatal ... ORPHA:2306
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Vomiting, Umbilical hernia, Hypogonadism, Intrauterine growth retardatio... ORPHA:79351
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Colitis, Albinism, ... OMIM:203300
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Arrhyt... ORPHA:465508
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Esophagitis, Recurrent respiratory infections ORPHA:3348
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Hypertrichosis, Inguinal hernia, Ventricular septal ... OMIM:235255
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate... OMIM:301043
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Feingold Syndrome 1
Tricuspid stenosis, Jejunal atresia, Ventricular septal defect, Tracheoesophageal fistula, Esopha... OMIM:164280
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Recurrent upper respiratory tract infections, Hematochezia, Secretory... OMIM:618183
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Orthostatic hypotension OMIM:268800
Glycogen Storage Disease Ii
Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Subarachnoid hemorrhage, Ri... OMIM:232300
Menke-Hennekam Syndrome 2
Recurrent upper respiratory tract infections, Duodenal ulcer, Chronic constipation OMIM:618333
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Gastroesophageal reflux, Furrowed tongue, Intrauterine growth retardation, Widow's peak, Patent f... OMIM:616975
Acute Bilirubin Encephalopathy
Neonatal sepsis, Feeding difficulties ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal sepsis, Feeding difficulties ORPHA:529808
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Pu... OMIM:614921
Distal Deletion 12Q
High, narrow palate, Microglossia, Congenital hypertrophy of left ventricle, Fine hair, Elbow fle... ORPHA:96149
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... ORPHA:91387
Multiple Endocrine Neoplasia Type 1
Peptic ulcer, Diarrhea, Gastroesophageal reflux, Vomiting, Melena, Shortened QT interval, Impoten... ORPHA:652
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Intrauterine growth retardation, Esophagitis, Recurrent infections, Growth delay... ORPHA:541423
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Umbilical hernia, Intestinal malrotation, Atrophic scars, Tricuspid regurgi... OMIM:601776
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Glycogen Storage Disease Ic
Recurrent upper respiratory tract infections, Inflammation of the large intestine, Spider hemangi... OMIM:232240
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Neonatal sepsis, Vomiting ORPHA:90790
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Epistaxis, Inflammation of the large intestine, Diarrhea, Growth delay, P... ORPHA:79259
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Cholangitis, Chronic diarrhea OMIM:619652
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Hypertension, Delayed puberty, Pancreatitis, Protubera... OMIM:232220
Spondyloocular Syndrome
Mitral valve prolapse, Low posterior hairline, Atrial septal defect, Dysplastic aortic valve, Sho... OMIM:605822
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... ORPHA:220460
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
High, narrow palate, Vomiting, Gastroesophageal reflux, Abnormal heart morphology, Postnatal grow... ORPHA:96182
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... ORPHA:70591
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Ankle flexion contracture, Eczematoid dermatitis, Camptodactyly of finger, ... ORPHA:468631
Metachromatic Leukodystrophy
Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Abnormal duodenum morphology, N... ORPHA:512
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Abnormal heart morphology, Atrophic scars, Abnormal heart valve morph... ORPHA:2953
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Tricuspid regurgitation OMIM:620306
Coffin-Siris Syndrome 1
Facial hypertrichosis, Dry hair, Postnatal growth retardation, Congenital diaphragmatic hernia, V... OMIM:135900
Iniencephaly
Rhizomelia, Congenital diaphragmatic hernia, Omphalocele, Anal atresia, Arthrogryposis multiplex ... ORPHA:63259
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Vomiting, Bronchiolitis, Small bowel diverticula, Congestive heart failure,... ORPHA:90348
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Facial telangiectasia, Splenomegaly, Mitral valve prolapse, Ventricular septa... OMIM:602782
Kindler Epidermolysis Bullosa
Cheilitis, Atypical scarring of skin, Inflammation of the large intestine, Periodontitis, Camptod... ORPHA:2908
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Subcutaneous lipoma, Esophagitis, Zollinger-Ellison syndrome OMIM:131100
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Recurrent pneumonia, Growth delay, Recur... ORPHA:731
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block ORPHA:228308
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, Intrauterine growth retar... ORPHA:1708
Gardner Syndrome
Gastrointestinal carcinoma, Keloids, Adenomatous colonic polyposis, Ampulla of Vater carcinoma, D... ORPHA:79665
Charge Syndrome
Postnatal growth retardation, Feeding difficulties, Ventricular septal defect, Overriding aorta, ... OMIM:214800
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Recurrent upper respiratory tract infections, Tetralogy ... ORPHA:264450
Tarp Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Thick eyebrow, Abnormal hair pattern, Abnor... ORPHA:2886
Apc-Related Attenuated Familial Adenomatous Polyposis
Gastrointestinal carcinoma, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Duodenal poly... ORPHA:247806
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Atrial septal defect, High palate, Anal atresia, Decreased ferti... ORPHA:84
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Subarterial ventricular septal defect, Recurrent pneumonia, Sepsis, Secundum atrial septal defect... ORPHA:99646
Familial Adenomatous Polyposis 1
Keloids, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gas... OMIM:175100
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Supernumerary nipple, Postnatal growth retardation, Esophagitis, Hiatus ... ORPHA:2896
9Q33.3Q34.11 Microdeletion Syndrome
Epistaxis, Highly arched eyebrow, Esophagitis, Telangiectasia, Abnormal hair pattern, Constipatio... ORPHA:495818
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Cardiomegaly, Arrhythmia, Hepatomegaly, Antenatal intracerebral hemorrhag... OMIM:608836
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Occipital Horn Syndrome
High, narrow palate, Atypical scarring of skin, Keloids, Gastroesophageal reflux, Coarse hair, He... ORPHA:198
Familial Adenomatous Polyposis
Abnormal cementum morphology, Adenomatous colonic polyposis, Stomach cancer, Duodenal adenocarcin... ORPHA:733
Hypoplasminogenemia
Duodenal ulcer, Periodontitis, Cervicitis ORPHA:722
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened PR interval, Cardio... ORPHA:365
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Umbilical hernia, Tetralogy of Fallot, Ventricular septal... OMIM:107480
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... ORPHA:95430
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Omphalocele OMIM:200995
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Viss Syndrome
Sparse scalp hair, Cleft soft palate, Chronic constipation, Contracture of the proximal interphal... OMIM:619472
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Mitral... OMIM:252500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Mucopolysaccharidosis Type 3
Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal aortic... ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Fraser Syndrome 1
Abnormal heart morphology, Extension of hair growth on temples to lateral eyebrow, Abnormal small... OMIM:219000
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:130650
Ogden Syndrome
Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula... OMIM:300855
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Diarrhea, Subcutaneous lipoma, Esophagitis, Zollinger-Ellison syndrome, Episodic ab... ORPHA:276152
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Cerebral hemorr... OMIM:620371
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly, Congestive heart failure ORPHA:14
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia ORPHA:97297
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vasculitis OMIM:620376
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Malrotation of small bowel, Gastroesophageal reflux, Intrauterine growth r... OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Congenital diaphragmatic hernia, Ventricu... OMIM:312870
Genitopatellar Syndrome
Malrotation of small bowel, Anal stenosis, Sparse scalp hair, Anteriorly placed anus, Knee flexio... OMIM:606170
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... ORPHA:3472
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Raynaud phenomenon ORPHA:51
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Left ventricular systolic dysfunction, Transient ischemic attack, Retina... ORPHA:51608
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Splenomegaly, Cardiomegaly, Arrhythmia, Hepatomegaly OMIM:256040
Williams Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Cerebral ischemia, Su...