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Gene: Ace2 MGI:1917258

Gene Summary

Name:

angiotensin converting enzyme 2

Synonyms:

2010305L05Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged spleen	Ace2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
abnormal uterus morphology	Ace2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Ace2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal retina morphology	Ace2^{em1(IMPC)Ccpcz}	HOM	Early adult	4.91×10^-06
enlarged heart	Ace2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
abnormal thymus morphology	Ace2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Ace2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Ace2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
abnormal spleen morphology	Ace2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased total body fat amount	Ace2^{em1(IMPC)Ccpcz}	HOM	Early adult	2.81×10^-06
hydrometra	Ace2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased lean body mass	Ace2^{em1(IMPC)Ccpcz}	HOM	Early adult	5.87×10^-06
abnormal heart morphology	Ace2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00

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Human diseases caused by Ace2 mutations

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

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

Human diseases associated with Ace2 (0 diseases)
Human diseases predicted to be associated with Ace2 (2718 diseases)

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

The table below shows human diseases predicted to be associated to Ace2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Immunodeficiency With Defective T-Cell Response To Interleukin 1	Recurrent otitis media, Recurrent pneumonia	OMIM:243110
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Lactose Intolerance, Adult Type	Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,...	OMIM:223100
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ...	OMIM:606685
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Hypertension, Essential	Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure	OMIM:145500
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain	OMIM:619182
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Angioedema, Hereditary, 3	Intestinal edema, Pharyngeal edema, Facial edema, Angioedema, Episodic abdominal pain, Vomiting	OMIM:610618
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy	Punctate corneal dystrophy	OMIM:183850
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Cardiomyopathy, Dilated, 3B	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased circulating cr...	OMIM:302045
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Diarrhea 9	Villous atrophy, Failure to thrive, Diarrhea	OMIM:618168
Raynaud Disease	Raynaud phenomenon	OMIM:179600
Platelet Prostacyclin Receptor Defect	Intermittent claudication	OMIM:262875
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren...	OMIM:613953
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los...	OMIM:619079
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b...	OMIM:619611
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Cardiomyopathy, Dilated, 1X	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611615
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease	OMIM:613148
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm...	OMIM:267450
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension	OMIM:152900
Young Syndrome	Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec...	OMIM:279000
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo...	OMIM:265450
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Pneumocystis jirove...	ORPHA:723
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m...	OMIM:616022
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F...	OMIM:613217
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio...	ORPHA:209964
Secretory Component Deficiency	Chronic intestinal candidiasis, Intermittent diarrhea	OMIM:269650
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Blepharitis, Corneal neovascula...	ORPHA:163934
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Mannose-Binding Lectin Deficiency	Recurrent herpes, Failure to thrive, Recurrent skin infections, Disseminated cryptosporidium infe...	OMIM:614372
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Angioedem...	OMIM:106100
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,...	ORPHA:70587
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota...	OMIM:614878
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep...	ORPHA:70592
Bile Acid Malabsorption, Primary, 1	Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive	OMIM:613291
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet...	ORPHA:2198
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100082
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption	OMIM:222900
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure...	OMIM:620296
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Elevated circulat...	ORPHA:206546
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Decreased DLCO, Dyspnea, Pulmonary arterial hypertension, Cough	OMIM:234810
Hereditary Angioedema Type 1	Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal...	ORPHA:100050
Hemochromatosis, Type 2A	Hepatomegaly, Increased circulating ferritin concentration, Congestive heart failure, Dilated car...	OMIM:602390
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem...	OMIM:619897
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,...	ORPHA:853
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hy...	ORPHA:1345
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona...	ORPHA:133
Morquio Syndrome C	Corneal opacity	OMIM:252300
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100080
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Conge...	OMIM:608099
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Sepsis, Hypoxemia, Diabetic ketoacidosis, Respiratory fail...	ORPHA:70578
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Lym...	OMIM:618495
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Cd8 Deficiency, Familial	Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral...	OMIM:608957
Dpm3-Cdg	Elevated hepatic transaminase, Elevated creatine kinase after exercise, Dilated cardiomyopathy	ORPHA:263494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circulating creatine kinase conce...	OMIM:612937
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Atrial Septal Defect 9	Pulmonary arterial hypertension	OMIM:614475
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ...	ORPHA:103907
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:154
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Abdominal distention, Diarrhea, Dehydration, Weight loss, Hematochezia, Protein-losing ent...	ORPHA:103910
Immunodeficiency 104	Pneumonia, Eczema, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Failure...	OMIM:608971
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr...	OMIM:181350
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy	OMIM:277175
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604286
Myelolymphatic Insufficiency	Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira...	OMIM:310350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Galactosialidosis	Corneal opacity	ORPHA:351
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Dilated cardiomyopathy, Reduced systolic function, Elevated circulating creatine kinase concentra...	OMIM:616827
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Diarrhea 7, Protein-Losing Enteropathy Type	Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive	OMIM:615863
Homozygous 11P15-P14 Deletion Syndrome	Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th...	OMIM:606528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea	OMIM:251850
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Butyrylcholinesterase Deficiency	Congestive heart failure, Abnormal circulating enzyme concentration or activity, Myocardial infar...	ORPHA:132
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Ar...	OMIM:616414
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media	OMIM:312863
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea	OMIM:615767
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Tricuspid regurgitation, Anorexia, Poor appetite, Hematemesis, Bowel urgency...	ORPHA:100075
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Edema, Malabsorption, Abdominal pai...	ORPHA:2070
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy	ORPHA:324588
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur...	OMIM:611705
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy	OMIM:610140
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Diabetes mellitus, Myocardial infarction	OMIM:608320
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,...	ORPHA:319552
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Spleno...	OMIM:613313
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia	OMIM:618806
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy, Malar rash	OMIM:618097
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor...	ORPHA:319218
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff...	OMIM:617300
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Chronic bronchitis	OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar...	ORPHA:26790
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure...	ORPHA:388
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me...	ORPHA:99147
Idiopathic Achalasia	Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora...	ORPHA:464321
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent...	OMIM:612444
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Elevate...	ORPHA:206559
Angioedema, Hereditary, 8	Diarrhea, Episodic vomiting, Abdominal pain	OMIM:619367
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Elevated hepatic transaminase, Dilated cardiomyopathy	OMIM:619688
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:300718
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity	ORPHA:88643
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Failure to thrive, Vomiting	OMIM:610370
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent...	ORPHA:563
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Dilated cardiomyopathy	OMIM:619903
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen...	OMIM:613501
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Lymphocytic interstitial pneumonia	OMIM:247610
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Recurrent candida infections, Eczematoid dermatitis,...	OMIM:269840
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Elevate...	OMIM:615395
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hyperaldosteronism	OMIM:605635
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Ciliary Dyskinesia, Primary, 39	Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp...	OMIM:618254
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase...	OMIM:619424
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction...	OMIM:614096
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi...	ORPHA:90363
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional ...	OMIM:265400
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami...	OMIM:618805
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Abdominal pain, High, narrow palate, Re...	ORPHA:79076
Dk1-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Congestive ...	ORPHA:91131
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:608644
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Decr...	OMIM:615952
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D...	ORPHA:263665
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Myopathy, Distal, 1	Left atrial enlargement, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrati...	OMIM:160500
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619048
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Suprav...	ORPHA:75249
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Syncop...	ORPHA:422
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc...	OMIM:255160
Systemic Capillary Leak Syndrome	Pericarditis, Pulmonary edema, Myocarditis, Leukocytosis, Pedal edema, Cardiorespiratory arrest, ...	ORPHA:188
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly	OMIM:609016
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Abnormal lung morphology, Tachypnea, Atelectasis, Whee...	ORPHA:60032
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:34515
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ...	ORPHA:60033
Immunodeficiency 40	Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Interstitial...	OMIM:616433
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer...	OMIM:610198
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Interstitial Lung Disease 2	Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea	OMIM:178500
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Myopathy, Myofibrillar, 3	Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:609200
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp...	OMIM:614868
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea...	OMIM:620300
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary e...	ORPHA:330012
Zygomycosis	Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf...	ORPHA:73263
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:300991
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Minimal change glomerulonephritis	OMIM:617006
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Methionine Malabsorption Syndrome	Tachypnea, White hair, Blue irides	OMIM:250900
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy	OMIM:300580
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit...	OMIM:601457
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis, Colonic eosin...	OMIM:617638
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Abnormal blood ion concentration, Sepsis, Tubulointerstitial neph...	ORPHA:37042
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Premature graying ...	OMIM:616371
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Hypokalemia, Respiratory failure, Inter...	ORPHA:330021
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Plasma Clot Retraction Factor, Deficiency Of	Gastrointestinal hemorrhage, Bruising susceptibility	OMIM:262800
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent...	OMIM:300257
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the...	OMIM:243700
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Sepsis	ORPHA:231154
Immunodeficiency 37	Colitis, Infectious encephalitis	OMIM:616098
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Heparin-Induced Thrombocytopenia	Cerebral ischemia, Myocardial infarction, Pulmonary embolism	ORPHA:3325
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections	OMIM:242870
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ...	OMIM:115197
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati...	OMIM:212138
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con...	ORPHA:732
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement	OMIM:611556
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo...	ORPHA:330001
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Increased circulating ferritin concentration, Dilated cardiomyopathy	ORPHA:79230
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Immunodeficiency 76	Chronic diarrhea, Colitis, Recurrent pneumonia	OMIM:619164
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact...	OMIM:613500
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy	OMIM:606703
Linear Iga Dermatosis	Inflammation of the large intestine, Epistaxis	ORPHA:46488
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Familial Hypofibrinogenemia	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding	ORPHA:101041
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis...	OMIM:619445
Familial Dysfibrinogenemia	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding	ORPHA:98881
Sandhoff Disease	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:796
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Diarrhea, Vomiting	OMIM:605911
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections	OMIM:618648
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstructi...	OMIM:613490
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Elevated c...	OMIM:300842
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp...	OMIM:540000
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Erythroderma Desquamativum	Diarrhea, Failure to thrive, Seborrheic dermatitis	ORPHA:314
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu...	OMIM:193670
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec...	OMIM:613502
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization	OMIM:617388
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat...	OMIM:608184
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Immunodeficiency, Common Variable, 1	Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu...	OMIM:607594
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema...	OMIM:174900
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur	ORPHA:3400
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:300376
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Scedosporiosis	Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni...	ORPHA:449280
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension	OMIM:106700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med...	ORPHA:572
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Cardiac arrest, Pustule, Myocarditis, Dyspnea, Hepatitis, Erythroderma, Thyroiditis, T...	ORPHA:139402
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adeno...	ORPHA:329971
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ...	OMIM:613960
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly	OMIM:618234
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Failure to thrive, Vomiting	OMIM:614265
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Lymphoproliferative Syndrome, X-Linked, 2	Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l...	OMIM:300635
Acute Lung Injury	Respiratory distress, Shock, Increased circulating interleukin 6 concentration, Acute pancreatiti...	ORPHA:178320
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom...	ORPHA:199241
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Winchester Syndrome	Corneal opacity	OMIM:277950
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure	OMIM:301021
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Atransferrinemia	Congestive heart failure, Atransferrinemia	OMIM:209300
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno...	ORPHA:2494
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral...	ORPHA:217390
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:212140
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:609500
Trichohepatoenteric Syndrome 2	Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ...	OMIM:614602
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re...	OMIM:613779
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Nonproductive cough, Tachypnea, Sepsis, Acute infectious pneumonia, Leukope...	ORPHA:36238
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Congenital Dyserythropoietic Anemia Type Iii	Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding	ORPHA:98870
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit...	OMIM:615481
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H...	ORPHA:911
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Limbal stem cell deficiency, Chronic rhinitis	OMIM:615225
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:608068
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:610947
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic car...	OMIM:611126
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Obesity, Arthritis, Recur...	OMIM:300310
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat...	ORPHA:367
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a...	OMIM:243150
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu...	OMIM:617514
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,...	OMIM:175500
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Immunodeficiency 57 With Autoinflammation	Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes...	OMIM:618108
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Immunodeficiency 32B	Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope...	OMIM:226990
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:612649
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Pulmonary embolism	ORPHA:82
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Skin rash, Anterior uveitis, Colitis, Ileal ulcer	OMIM:616744
Myopathy, Centronuclear, 5	Dilated cardiomyopathy, Mitral regurgitation, Abnormal circulating creatine kinase concentration	OMIM:615959
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:91130
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru...	ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Maculopapular exanthema, Skin...	ORPHA:398124
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascu...	OMIM:278730
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Bronchiectasis, Persistent EBV viremia	OMIM:619126
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Chylomicron Retention Disease	Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea...	OMIM:246700
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive	OMIM:606824
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Increased circulating ferritin concent...	OMIM:235200
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren...	OMIM:613493
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Epistaxis, Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pn...	OMIM:301000
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Myopathy, Distal, 4	Cardiomyopathy, Mildly elevated creatine kinase	OMIM:614065
Immunodeficiency 70	Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia	OMIM:618969
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Hemorrhagic Fever-Renal Syndrome	Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis, Vomiti...	ORPHA:340
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr...	OMIM:300455
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Rabies	Nausea and vomiting, Diarrhea, Anorexia	ORPHA:770
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Tachycardia, Skin rash, Heart block, Tachypnea, Capillary leak, ...	ORPHA:542323
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Hepatic failu...	ORPHA:331
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Refsum Disease, Classic	Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Cardiomyopa...	OMIM:266500
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Increased circulating gonadotropin level, Hypovolemia, Capillary leak, Periphera...	ORPHA:64739
Neonatal Alloimmune Neutropenia	Pneumonia, Maternal diabetes, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil...	ORPHA:464370
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur...	ORPHA:49827
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Myocardial infarction	OMIM:615703
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Hereditary Mixed Polyposis Syndrome	Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D...	ORPHA:157794
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si...	OMIM:619281
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Congenital Myopathy 2A, Typical, Autosomal Dominant	Dilated cardiomyopathy, Mildly elevated creatine kinase	OMIM:161800
Isolated Agammaglobulinemia	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn...	ORPHA:229717
Enterokinase Deficiency	Diarrhea, Failure to thrive	OMIM:226200
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated creatine kinase after exercise, Su...	ORPHA:99901
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Preeclampsia/Eclampsia 1	Hypertension	OMIM:189800
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:309930
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjunctivitis, ...	OMIM:612692
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom...	ORPHA:251992
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Decreased proportion of naive T cells, Ski...	ORPHA:276
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Neutropenia, Lympho...	OMIM:300988
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Congestive heart failure, Abnormal heart m...	ORPHA:70472
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Cholecystitis,...	ORPHA:99827
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat...	OMIM:310200
Esophagitis, Eosinophilic, 2	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:610247
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Turcot Syndrome With Polyposis	Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He...	ORPHA:99818
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage	OMIM:106070
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton...	OMIM:158310
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Mitochondrial Dna Depletion Syndrome 11	Arrhythmia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:615084
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Analbuminemia	Hypotension, Hypoalbuminemia, Elevated circulating transferrin concentration	OMIM:616000
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron...	OMIM:604571
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:252011
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Failure to thrive, Hepatic failure, Paralytic...	OMIM:276700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:618120
American Trypanosomiasis	Hepatomegaly, Skin rash, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arr...	ORPHA:3386
Immunodeficiency 77	Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru...	OMIM:619223
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Secreto...	OMIM:616050
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypertrophic cardiomy...	OMIM:231530
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Rift Valley Fever	Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Retinal hemorrhage, Uveitis, Macular edema, ...	ORPHA:319251
Avian Influenza	Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c...	ORPHA:454836
Brunner Syndrome	Diarrhea	OMIM:300615
Distal Myopathy, Welander Type	Cardiomyopathy, Mildly elevated creatine kinase	ORPHA:603
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection...	OMIM:202700
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:609015
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure	OMIM:616794
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu...	ORPHA:183675
Activated Pi3K-Delta Syndrome	Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, Bronchiectasis...	ORPHA:397596
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent herpes, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Recurren...	ORPHA:169160
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Cong...	ORPHA:206569
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Stuve-Wiedemann Syndrome 2	Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension	OMIM:619751
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:614679
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Scrub Typhus	Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Hypotension, Infectious encephalitis	ORPHA:83317
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu...	OMIM:615482
Hb Bart'S Hydrops Fetalis	Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly	ORPHA:163596
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Immunodeficiency, Common Variable, 2	Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis...	OMIM:240500
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Immunodeficiency 60 And Autoimmunity	Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease	OMIM:618394
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Inflammatory abnormality of the skin, Ventricul...	ORPHA:26793
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Coproporphyria, Hereditary	Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo...	OMIM:121300
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Failure to thrive, Recurrent urinary tract infections, Sinusitis, Autoimmune...	OMIM:613179
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Arrhythmia,...	ORPHA:159
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hypotension	ORPHA:369873
Congenital Enterovirus Infection	Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Cardiomyopathy, Hypoalbuminemia, Hypoten...	ORPHA:292
Glucocorticoid Resistance, Generalized	Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s...	OMIM:615962
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod...	ORPHA:79126
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu...	OMIM:616576
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v...	ORPHA:70588
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec...	OMIM:617091
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive, Malabsorption	ORPHA:79301
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Infantile Sialic Acid Storage Disease	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly	OMIM:269920
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:255100
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid...	OMIM:617092
Immunodeficiency 56	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo...	OMIM:615207
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent bacte...	OMIM:300400
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri...	ORPHA:2688
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Hsd10 Disease, Neonatal Type	Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy	ORPHA:391457
Diarrhea 13	Failure to thrive, Secretory diarrhea, Vomiting	OMIM:620357
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f...	ORPHA:2032
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Laing Early-Onset Distal Myopathy	Dilated cardiomyopathy, Mildly elevated creatine kinase	ORPHA:59135
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Neonatal respiratory distress, Pulmonary arterial hypertension	OMIM:619003
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Caroli Syndrome	Abnormal bleeding, Cholangiocarcinoma, Cholangitis, Portal hypertension, Abdominal pain, Hemateme...	ORPHA:480520
Familial Partial Lipodystrophy, Köbberling Type	Hypertension, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir...	OMIM:614921
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Increased circulating antibody level, Pneumonia	OMIM:247800
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right...	ORPHA:97287
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy...	ORPHA:767
Legionnaires Disease	Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Hypotension, Arrhythm...	ORPHA:549
Muscular Dystrophy, Congenital, Megaconial Type	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:602541
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Acute Radiation Syndrome	Abnormal bleeding, Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis...	ORPHA:454831
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
C1Q Deficiency 2	Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi...	OMIM:620321
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Pleural effusion, Gastrointestinal infarctions, Constrictive pericar...	OMIM:602248
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Glycosylphosphatidylinositol Biosynthesis Defect 1	Splenomegaly, Hepatomegaly, Portal vein thrombosis, Portal hypertension	OMIM:610293
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac...	OMIM:617475
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum...	OMIM:613808
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma	ORPHA:1473
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Vasculitis, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Subconjunctival hemorr...	OMIM:617718
Immunodeficiency 62	Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronc...	OMIM:618459
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:280356
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy	OMIM:610100
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Congestive heart failure, Abnormal aortic valv...	ORPHA:1194
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141179
Neutropenia, Severe Congenital, X-Linked	Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio	OMIM:300299
Muscle Filaminopathy	Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right bundle branch b...	ORPHA:171445
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Genital edema, Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Increased T...	ORPHA:98813
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chronic diarrhea, ...	OMIM:619858
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Congestive heart failure, Gastrointestinal dysmotility, D...	ORPHA:67
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:612336
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of...	OMIM:203300
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Enteric Anendocrinosis	Diarrhea, Vomiting, Malabsorption	ORPHA:83620
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Arrhythmia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:352447
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt...	OMIM:619220
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:615518
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Hepatic failure	ORPHA:2724
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Elevated total serum tryptase, Hypotension, ...	ORPHA:79455
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Absence Of The Pulmonary Artery	Orthopnea, Recurrent respiratory infections, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fi...	ORPHA:980
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Failure to thrive, Hematochezia, Prolonged prothrombin time, Fat malabsorpt...	OMIM:214950
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,...	OMIM:266265
Pgm3-Cdg	Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Neutro...	ORPHA:443811
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction	OMIM:137560
Orthostatic Hypotensive Disorder, Streeten Type	Orthostatic hypotension, Syncope	OMIM:143850
Complement Component 4B Deficiency	Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o...	OMIM:614379
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Cardiomyopathy, Mitral regurgitation, Dilated cardiomyopathy, Telangiectasia of the skin	OMIM:212112
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Fasciitis, Sinusitis, Elevated circulating creatine kinase concentration, Myo...	ORPHA:36234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Aa Amyloidosis	Hepatomegaly, Enlarged kidney, Hypotension, Abnormal heart morphology	ORPHA:85445
Nipah Virus Disease	Infectious encephalitis, Hypotension	ORPHA:99825
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Congenital Myopathy 4A, Autosomal Dominant	Dilated cardiomyopathy	OMIM:255310
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Recurrent bac...	OMIM:601495
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Distal Myotilinopathy	Cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:98911
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi...	ORPHA:85446
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Pulmonary Arteriovenous Malformation	Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Telangiectasi...	ORPHA:2038
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Feeding difficulties	OMIM:620368
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, B...	OMIM:615513
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ...	OMIM:613193
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Obesity, Diarrhea, Malabsorption	OMIM:600955
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy	ORPHA:272
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Babesiosis	Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Jaundice, Hepatic fa...	ORPHA:108
Perry Syndrome	Hypotension	ORPHA:178509
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141184
Omenn Syndrome	Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thro...	OMIM:603554
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Mucolipidosis Type Iii	Corneal opacity, Acne	ORPHA:577
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Hypertension, Decreased adiponectin level, Decreased serum leptin	OMIM:615238
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Abnormal left ventricular function, Dilated cardiomyopathy, Elevated circulating creatine kinase ...	OMIM:607155
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:615139
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypotension	OMIM:615668
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Cardiomyopathy, Elevated circulating creatine kinase concentration...	OMIM:610717
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intermittent diarrhea, Obesity, Feeding difficulties	OMIM:620270
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ...	ORPHA:131
Nephrotic Syndrome, Type 11	Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia, Minimal change glomerulonephr...	OMIM:616730
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D...	ORPHA:449395
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula...	OMIM:605373
Atrial Fibrillation, Familial, 12	Paroxysmal atrial fibrillation	OMIM:614050
Reticular Dysgenesis	Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive	ORPHA:33355
Hellp Syndrome	Hemolytic anemia, Generalized edema, Decreased mean corpuscular hemoglobin concentration, Cerebra...	ORPHA:244242
Cardiomyopathy, Dilated, 2H	Tachypnea, Cardiorespiratory arrest	OMIM:620203
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Mpi-Cdg	Gastrointestinal hemorrhage, Edema, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vo...	ORPHA:79319
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia	ORPHA:157973
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Colitis, Recurrent sinusitis	OMIM:613101
Aspergillosis	Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chro...	ORPHA:1163
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Pericardial effusion...	ORPHA:411703
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Myocard...	ORPHA:3452
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Hypotension...	ORPHA:99828
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble...	OMIM:231200
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease	ORPHA:69126
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:308552
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated hepatic transaminase, Decreased liver function, Episodic tachypnea	OMIM:615160
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Atrial Fibrillation, Familial, 1	Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 2	Atrial fibrillation	OMIM:608988
Atrial Fibrillation, Familial, 5	Atrial fibrillation	OMIM:611494
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus...	OMIM:618982
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre...	OMIM:616037
Folate Malabsorption, Hereditary	Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption	OMIM:229050
Limited Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Telangiectasia of the skin, Mucosal telangiectasiae	ORPHA:220402
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Cednik Syndrome	Congestive heart failure	ORPHA:66631
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Heart block, Cardiomyopathy, Abnormal left ventricular function	ORPHA:98912
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumo...	ORPHA:2257
Immunodeficiency 102	Severe varicella zoster infection, Sepsis, Leukopenia, Hypothyroidism, Autoimmune thrombocytopeni...	OMIM:301082
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Fatal liver failure in infancy	ORPHA:254857
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hypothyroidism,...	OMIM:606367
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis...	OMIM:614700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope...	OMIM:618986
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Cheilitis, Bronchiectasis, Recu...	OMIM:615468
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough	OMIM:604809
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hypotension	OMIM:145600
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Bile Acid Synthesis Defect, Congenital, 3	Failure to thrive, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Prolonged prothrombin time,...	OMIM:613812
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ...	ORPHA:44890
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restrictive ventilatory defect, Pleural effusio...	OMIM:612387
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Conjuncti...	OMIM:616740
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Chronic mucocut...	OMIM:147060
Dracunculiasis	Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis	ORPHA:231
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote...	ORPHA:449285
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co...	OMIM:616100
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co...	OMIM:301074
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin...	ORPHA:873
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Relapsing Fever	Elevated hepatic transaminase, Tachycardia, Epistaxis, Elevated circulating C-reactive protein co...	ORPHA:91547
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasi...	OMIM:616005
Microlissencephaly	Pneumonia	ORPHA:1083
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Elevated circulating alkaline phosphatase concentration, Elevated circulating cre...	ORPHA:52430
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis...	OMIM:155310
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr...	OMIM:614069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:608807
Immunodeficiency 19	Recurrent otitis media, Failure to thrive, Chronic diarrhea	OMIM:615617
Lessel-Kubisch Syndrome	Hypertension, Hypogonadism	OMIM:618681
Tularemia	Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Meningi...	ORPHA:3392
Hemophilia B	Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee...	OMIM:306900
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Shigellosis	Anorexia, Intestinal perforation, Dehydration, Bloody diarrhea, Paralytic ileus, Uveitis, Hypovol...	ORPHA:810
Congenital Factor Xi Deficiency	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong...	ORPHA:329
Isolated Atp Synthase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Global systolic dysfunction	OMIM:606842
Scimitar Syndrome	Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ...	ORPHA:185
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Polyhydramnios, Abdominal pain, Feeding difficulties, High palate, Vom...	OMIM:616809
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Edema, Skin rash, Vasculitis, Weight...	ORPHA:324964
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio...	ORPHA:436159
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism	OMIM:145260
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary arterial hype...	ORPHA:228116
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Immunodeficiency, Common Variable, 13	Pancytopenia, Polyhydramnios, Acute lymphoblastic leukemia, Recurrent bacterial infections, B lym...	OMIM:616873
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum...	OMIM:613807
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Pulmonary arterial hypertension,...	OMIM:212350
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis	OMIM:614328
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Pericardial effusion, Dyspnea, Angioedema, Meningitis, Splenomegaly, Uve...	ORPHA:36412
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:309108
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Bronchiectasis, Recurrent infections, Decreased bod...	ORPHA:477814
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ...	OMIM:203800
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi...	ORPHA:183
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis	OMIM:608106
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Necrotizing Enterocolitis	Shock, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension	ORPHA:391673
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sple...	ORPHA:169090
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Recurrent bacterial infections, T lymphocytopenia, ...	ORPHA:169079
Mogs-Cdg	Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Polyhydramnios, Edema, Hepatosplen...	ORPHA:79330
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron...	OMIM:242700
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon...	ORPHA:727
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re...	OMIM:610984
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Tubulointerstitial...	ORPHA:90068
Immunodeficiency 58	Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ...	OMIM:618131
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac...	ORPHA:829
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Endocarditis, A...	ORPHA:3099
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Increased circulating renin level, Hypotension	OMIM:620125
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Shortened QT interval, Diarr...	ORPHA:652
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren...	OMIM:614172
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu...	ORPHA:2326
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Corticosterone Methyloxidase Type I Deficiency	Increased circulating renin level, Hypotension	OMIM:203400
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Cardiomyopathy, Arrhythmia, Elevated circulating creatine kinase concentration	OMIM:612999
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Classic Multiminicore Myopathy	Congestive heart failure, Mitral valve prolapse, Right ventricular hypertrophy, Right ventricular...	ORPHA:324604
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:609308
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Fai...	OMIM:615816
Renal Failure, Progressive, With Hypertension	Hypertension	OMIM:161900
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling...	ORPHA:98878
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Maculopapular exanthema, Portal hypertension, Hepatosplenomegaly, El...	ORPHA:98850
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Dyskeratosis Congenita, Autosomal Dominant 1	Dyspnea, Interstitial pneumonitis, Budd-Chiari syndrome, Pulmonary fibrosis	OMIM:127550
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia...	OMIM:150550
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili...	ORPHA:331206
Takayasu Arteritis	Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi...	ORPHA:3287
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenitis, Granulomatosis, Cough, Atelectasis, Recurrent E. coli infections, A...	OMIM:306400
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Immunodeficiency 91 And Hyperinflammation	Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Edema, BCGosis, ...	OMIM:619644
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Late-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Increased circulating renin level, Hypotension	ORPHA:556037
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,...	OMIM:618999
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Portal hypertension, Cardiomegaly, Increased circulating ferritin concentration, Co...	ORPHA:465508
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubulointerstitial nephritis...	ORPHA:289390
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly, Optic atrophy	OMIM:611721
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:615352
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Abnormal...	ORPHA:90308
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ...	OMIM:168000
Glycogen Storage Disease Iii	Ventricular hypertrophy, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creati...	OMIM:232400
Holocarboxylase Synthetase Deficiency	Respiratory distress, Alopecia, Eczema, Tachypnea, Keratoconjunctivitis, Perioral eczema	ORPHA:79242
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopat...	ORPHA:71212
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Increased circulating ferritin concentration, Congestive heart fai...	ORPHA:139507
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Edema, Malabsorption, Abdominal pain, Pustule, Skin...	ORPHA:793
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Elevated circulating creatine kinase concentration, Sudden cardiac dea...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Elevated circulating creatine kinase concentration, Sudden cardiac dea...	ORPHA:98853
Junctional Epidermolysis Bullosa Inversa	Gastrointestinal inflammation	ORPHA:79405
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Graft Versus Host Disease	Tachycardia, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Abdominal pain, Inflammator...	ORPHA:39812
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Pigmentary reti...	ORPHA:79264
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Corticosteroid-Binding Globulin Deficiency	Hypertension, Decreased circulating cortisol level, Hypotension	OMIM:611489
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive	OMIM:612075
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Elevated circulating creatine kinase concentration, Sudden cardiac dea...	ORPHA:98855
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl...	OMIM:106300
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest...	OMIM:275000
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Erythroderma, Elevated total serum tryptase, Hypotension	ORPHA:79456
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Congestive heart failure	ORPHA:500533
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa...	ORPHA:2137
Meningococcal Meningitis	Shock, Skin rash, Elevated circulating C-reactive protein concentration, Hypotension, Infectious ...	ORPHA:33475
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Agammaglobulinemia, Decr...	OMIM:619705
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Hepatic failure	ORPHA:261519
Early-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Increased circulating renin level, Hypotension	ORPHA:556030
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Liddle Syndrome 2	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes...	OMIM:603041
Biotinidase Deficiency	Alopecia, Apnea, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Tachypnea, Conjunct...	OMIM:253260
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting	ORPHA:543
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Blue Rubber Bleb Nevus	Prolonged bleeding time, Skin rash, Intestinal bleeding, Gastrointestinal infarctions, Volvulus	ORPHA:1059
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Lym...	OMIM:102700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,...	OMIM:618282
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage	OMIM:300845
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Illum Syndrome	Bradycardia	OMIM:208155
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit...	ORPHA:51636
Lujo Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-...	ORPHA:319213
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re...	OMIM:620197
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri...	OMIM:221900
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu...	ORPHA:31826
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Melioidosis	Brain abscess, Unusual skin infection, Lung abscess, Foot osteomyelitis, Pneumonia, Respiratory t...	ORPHA:31202
Erythrokeratodermia Variabilis	Skin rash, Cataract, Corneal opacity	ORPHA:317
Cholesteryl Ester Storage Disease	Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix	ORPHA:75234
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In...	ORPHA:424019
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged...	ORPHA:849
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Neutropenia, Reduced na...	OMIM:615214
Congenital Myopathy 24	Cardiomyopathy, Abnormal circulating creatine kinase concentration, First degree atrioventricular...	OMIM:617336
Cronkhite-Canada Syndrome	Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Furrowed tongu...	ORPHA:2930
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Elevated circulating creatine kinase conc...	OMIM:300280
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Constrictive pericarditis, Arthritis	OMIM:208250
Congenital Isolated Acth Deficiency	Hepatitis, Hypotension, Prolonged neonatal jaundice	ORPHA:199296
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Neutrophilia, Meningitis, Respiratory paralysis, Inappropr...	ORPHA:79139
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,...	ORPHA:100078
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp...	OMIM:619971
Joubert Syndrome 7	Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:611560
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Late-Onset Junctional Epidermolysis Bullosa	Gastrointestinal inflammation	ORPHA:79406
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im...	OMIM:618063
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity, Congestive he...	OMIM:229300
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hypotension	ORPHA:91354
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Eczema, Minimal change glomerulonephritis	OMIM:618348
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive	ORPHA:178029
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ...	ORPHA:2929
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Hurler-Scheie Syndrome	Cardiomyopathy, Rhinitis, Corneal opacity	ORPHA:93476
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis	OMIM:301220
Preeclampsia	Type I diabetes mellitus, Hypertension, Elevated systolic blood pressure, Elevated diastolic bloo...	ORPHA:275555
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration	OMIM:602271
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis, Autoimmune ...	OMIM:613496
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Increased circulating renin level, Hypotension	OMIM:177735
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Felty Syndrome	Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p...	ORPHA:47612
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Finnish Upper Limb-Onset Distal Myopathy	Cardiomyopathy, Mildly elevated creatine kinase	ORPHA:399086
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Chylous Ascites	Ascites, Abnormal intestine morphology, Pancreatitis, Lymphedema	ORPHA:1160
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Eczema, Portal hypertension, Elevated cir...	OMIM:615688
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infect...	OMIM:618048
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, S...	OMIM:612840
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary em...	ORPHA:70591
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa...	OMIM:241600
Familial Cervical Artery Dissection	Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Hydroxykynureninuria	Stomatitis, Tachycardia, Hypotension	ORPHA:79155
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Perior...	OMIM:142680
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Congestive hea...	OMIM:619355
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Lipodystrophy, Splenomegaly, Hepatosplenomegal...	OMIM:612526
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Moderate Hemophilia A	Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ...	ORPHA:169805
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep...	ORPHA:65682
Pyoderma Gangrenosum	Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myositis	ORPHA:48104
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Thrombo...	OMIM:603585
Self-Improving Dystrophic Epidermolysis Bullosa	Gastrointestinal inflammation	ORPHA:79411
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia	ORPHA:90037
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Myocardial infarction, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Dia...	ORPHA:90038
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Omenn Syndrome	Failure to thrive, Pneumonia, Edema, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsi...	ORPHA:39041
Dyskeratosis Congenita, Autosomal Recessive 8	Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Petechiae	OMIM:620133
Glutaric Aciduria Iii	Diarrhea, Failure to thrive, Vomiting	OMIM:231690
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Corneal opacity	OMIM:607016
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U...	OMIM:618935
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Arthritis...	OMIM:617321
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Left ven...	ORPHA:746
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension	OMIM:264350
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Congestive hear...	ORPHA:99050
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Cardiomegaly	OMIM:619259
Fish-Eye Disease	Angina pectoris, Corneal opacity	ORPHA:79292
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Abnormal fingernail morphology, Yellow nails, Dyspne...	ORPHA:662
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par...	OMIM:610489
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema	OMIM:105210
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia	OMIM:614654
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism, Joint contracture	OMIM:608540
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert...	ORPHA:263297
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Osteoarthritis, Cardiomyopathy, Arrhy...	OMIM:606069
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia, Hepatitis, Seps...	OMIM:308230
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Decreased liver function	ORPHA:67048
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu...	ORPHA:228119
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive	OMIM:230350
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Infant Botulism	Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Chronic otitis media	ORPHA:178478
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ...	OMIM:619707
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular morphology...	OMIM:607616
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Recurrent respiratory infections, Myositis, Skin rash, Pustule, Ta...	OMIM:615934
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating aspart...	OMIM:617253
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608836
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Wiskott-Aldrich Syndrome	Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m...	ORPHA:906
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal...	ORPHA:298
Sandhoff Disease, Juvenile Form	Diarrhea, Failure to thrive, Constipation, Dysphagia	ORPHA:309162
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension	OMIM:619059
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, ...	ORPHA:79083
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Tachypnea	OMIM:620085
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Pulmonary arterial hypertension	OMIM:619064
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections, Neutropenia	OMIM:606843
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ...	ORPHA:231625
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Pancreatitis	ORPHA:2348
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev...	OMIM:171400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Abnormal natur...	ORPHA:79124
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Secretory diarrhea, Feeding difficulties, Hematochezia, Ana...	OMIM:618183
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El...	OMIM:273250
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension	OMIM:300887
Myopathy, Myofibrillar, 4	Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:609452
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, C...	ORPHA:309031
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Dilated cardiomyopathy, Bradycardia	OMIM:610768
Typhoid	Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons...	ORPHA:99745
Liddle Syndrome 1	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:177200
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir...	OMIM:612541
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Immunodeficiency 92	Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, BCGosis, Le...	OMIM:619652
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polyc...	ORPHA:2969
Propionic Acidemia	Apnea, Eczema, Tachypnea, Propionyl-CoA carboxylase deficiency, Pancreatitis	OMIM:606054
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cardiomyopathy, Myofiber disarray	OMIM:301075
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Vomiting, Pancreatitis, Abdominal pain	OMIM:620137
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumonia	OMIM:619057
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Elevated hepat...	ORPHA:66634
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Antisynthetase Syndrome	Aortic regurgitation, Myositis, Telangiectasia of the skin, Elevated circulating creatine kinase ...	ORPHA:81
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Pustule, Co...	ORPHA:247353
Isolated Anencephaly	Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia	ORPHA:563609
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	OMIM:620010
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Congestive heart failure	OMIM:616866
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Arthritis, Cardiomyo...	OMIM:604250
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve mo...	ORPHA:781
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Jaundice, Dilate...	ORPHA:20
Citrullinemia Type I	Hepatic failure, Tachypnea	ORPHA:247525
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Secretory diarrhea, Vomiting, Failure to thrive	OMIM:616069
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse, Bowel incontinence	OMIM:176780
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Lymphedema, Abnormal neutrophil count, Splenomegaly, Leukocytos...	ORPHA:3226
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti...	ORPHA:2686
Duchenne Muscular Dystrophy	Cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:98896
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Bacterial endocarditis	ORPHA:1054
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Asplenia	OMIM:601086
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Tachycardia, Elevated circulatin...	ORPHA:90051
Chromosome 19P13.13 Deletion Syndrome	Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting	OMIM:613638
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent sinusitis, Persistent EBV...	OMIM:620282
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Immunodeficiency 15B	Failure to thrive, Chronic diarrhea, Chronic oral candidiasis	OMIM:615592
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Atrial fibrillation, Keratitis, Conges...	ORPHA:525731
Polycystic Kidney Disease 5	Hypertension	OMIM:617610
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,...	ORPHA:679
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Congenital Generalized Lipodystrophy	Hepatomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Increased C-peptide level	ORPHA:528
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Congestive heart failure, Tachycardia, Jaundice	ORPHA:90033
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati...	ORPHA:228305
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Vascu...	ORPHA:343
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Seborrheic dermatitis, Recurrent bacterial infections, Absent circulating B ce...	OMIM:619693
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Atrioventricular block	OMIM:614407
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis...	ORPHA:913
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Retinal hem...	ORPHA:509
Potocki-Shaffer Syndrome	Hypertension, Hypothyroidism, Delayed puberty	ORPHA:52022
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa...	ORPHA:35710
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Bile Acid Synthesis Defect, Congenital, 2	Failure to thrive, Diarrhea, Hepatic failure, Steatorrhea	OMIM:235555
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C...	OMIM:244400
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Scorpion Envenomation	Bundle branch block, Acute pancreatitis, Tachycardia, Edema, Cardiac conduction abnormality, Myoc...	ORPHA:466677
Ogden Syndrome	Apnea, Maternal diabetes, Lymphedema, Ventricular tachycardia, Iron deficiency anemia, Supraventr...	OMIM:300855
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Tricuspid regurgitation	OMIM:619051
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Recurrent otitis media, Conjunctivitis, Corneal opacity	OMIM:602562
Maculopapular Cutaneous Mastocytosis	Diarrhea, Vomiting, Nausea, Abdominal pain	ORPHA:79457
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Cholestasis, Progressive Familial Intrahepatic, 2	Fat malabsorption, Failure to thrive, Diarrhea, Hepatocellular carcinoma	OMIM:601847
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Severe varicella zoster infection,...	OMIM:615387
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto...	ORPHA:1572
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Atelectasis, Dyspnea, C...	ORPHA:2357
Hyperaldosteronism, Familial, Type Iii	Hypertension, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level	OMIM:613677
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Pneumonia, Heart murmur	ORPHA:1867
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Congestive heart failure, ...	ORPHA:2331
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Angina pectoris, Myocardial infarction	OMIM:176670
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Failure to thrive, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption...	OMIM:607765
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Recessive Dystrophic Epidermolysis Bullosa Inversa	Esophageal stricture, Gastrointestinal inflammation	ORPHA:79409
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Tachypnea, Pulmonary arterial hypertension	OMIM:614857
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure	ORPHA:3077
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Res...	ORPHA:79128
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Cln3 Disease	T-wave inversion, Bradycardia	ORPHA:228346
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Renal Tubular Dysgenesis	Hypotension	OMIM:267430
Familial Hypoaldosteronism	Orthostatic hypotension, Increased circulating renin level, Hypovolemia, Hypotension	ORPHA:427
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper ...	OMIM:602450
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Hyperlipoproteinemia, Type Id	Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Skin rash	ORPHA:290
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Congestive heart failure, Cardiac myxoma, Pitu...	OMIM:160980
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Bronchiectasis, Cough	OMIM:619468
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Abnormal circulating enzyme concentration or ac...	ORPHA:2590
Immunodeficiency 97 With Autoinflammation	Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot...	OMIM:619802
Cog7-Cdg	Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties	ORPHA:79333
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Recurrent pneumonia, Recurrent otitis ...	ORPHA:277
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Hypertension, Anterior hypopituitarism	ORPHA:181
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Bradycardia	OMIM:609286
Pseudohypoaldosteronism, Type Iib	Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Pseudohypoaldosteronism	OMIM:614495
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Failure to thrive, Eosinophilia, Recurrent viral infections, Autoimmune thromboc...	ORPHA:169154
Mirage Syndrome	Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Thrombocy...	OMIM:617053
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago...	ORPHA:983
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity...	OMIM:619151
Pulmonary Alveolar Microlithiasis	Bronchitis, Respiratory tract infection, Nonproductive cough, Dyspnea, Tachypnea, Pleural thicken...	ORPHA:60025
Lipodystrophy, Familial Partial, Type 4	Hypertension, Insulin-resistant diabetes mellitus	OMIM:613877
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia	OMIM:617341
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive	ORPHA:172
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Cardiomyopath...	ORPHA:2394
Microvillus Inclusion Disease	Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea	ORPHA:2290
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Skin rash	OMIM:618321
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis,...	ORPHA:29207
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Keratitis, Bronchiectasis, Recurrent otitis media	OMIM:618523
Alg1-Cdg	Cardiomyopathy, Hypoalbuminemia, Decreased liver function, Abnormal heart morphology	ORPHA:79327
Gaucher Disease, Type I	Epistaxis, Dyspnea, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic v...	OMIM:230800
Dominant Beta-Thalassemia	Splenomegaly, High-output congestive heart failure, Dilated cardiomyopathy, Jaundice, Hepatosplen...	ORPHA:231226
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain...	OMIM:619381
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract	OMIM:617183
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Familial Hemophagocytic Lymphohistiocytosis	Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Ecchymosis, ...	ORPHA:540
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Failure to thrive, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea, ...	OMIM:602579
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral...	ORPHA:2848
Alpha-Mannosidosis	Chronic otitis media, Arthritis, Cataract, Corneal opacity	ORPHA:61
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Chilblains, Edema, Pneumonia, Pericardial effusion, Hematemesis, D...	OMIM:615846
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp...	ORPHA:73224
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Lymphadenitis, H...	OMIM:618886
Serotonin Syndrome	Hypertension, Tachycardia, Hepatic failure, Hypotension	ORPHA:43116
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Primary Membranoproliferative Glomerulonephritis	Hypertension, Myocardial infarction	ORPHA:54370
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke	OMIM:615750
Braddock Syndrome	Pulmonary arterial hypertension, Neonatal respiratory distress	ORPHA:52047
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Pulmonary arterial hypertension	ORPHA:391372
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory...	ORPHA:348
Liver Disease, Severe Congenital	Chronic gastritis, Sepsis, Abnormal left ventricular function, Leukopenia, Lymphocytosis, Cough, ...	OMIM:619991
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Elevated circulating aspartate amino...	OMIM:619573
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Joubert Syndrome 9	Apnea, Episodic tachypnea	OMIM:612285
Hyaline Fibromatosis Syndrome	Diarrhea, Failure to thrive	OMIM:228600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Necrotizing enterocolitis, Sudden cardiac death, Reduced left ventricular ejection fraction, Gast...	OMIM:201475
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:608779
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio...	ORPHA:90795
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cataract, Micr...	OMIM:175780
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Abnormal heart valve morphology, Congestive he...	OMIM:309900
Joubert Syndrome 3	Central apnea, Episodic tachypnea, Highly arched eyebrow, Pigmentary retinopathy, Neonatal breath...	OMIM:608629
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage	OMIM:605735
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myocardial fibrosis, ...	OMIM:253800
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa...	ORPHA:31825
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chronic cough, Coug...	OMIM:620233
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Hypoalbuminemia, Internal hemorrhage...	ORPHA:99826
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism	OMIM:152950
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Cardiomyopathy, Jaundice, Acute hepatic failure	OMIM:616483
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Transient ischemic attack, C...	ORPHA:3260
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Congestive heart failure, Splenomegaly, Recurrent pneumonia, Increased circulating ...	OMIM:617303
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Asthma, Recurrent pneumonia, Recurrent upper respiratory tract infecti...	OMIM:619752
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean	OMIM:604320
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Spastic Paraplegia 84, Autosomal Recessive	Crohn's disease	OMIM:619621
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl, Episodic tachypnea	ORPHA:2872
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Abn...	ORPHA:47
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre...	ORPHA:48435
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, A...	ORPHA:85410
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne...	ORPHA:1302
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens...	ORPHA:347
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P...	ORPHA:31205
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenocortical ad...	ORPHA:231632
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Elevated circulating creatine kinase concentration, P...	ORPHA:94093
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Recurrent infections	OMIM:615434
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Hypotension	ORPHA:361
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Immunodeficiency 22	Pericarditis, Capillary leak, Decreased circulating total IgM, Panniculitis, Decreased circulatin...	OMIM:615758
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi...	ORPHA:231580
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Chronic diarrhea, Esophageal varix, Inflammation of the large intestine, Peau ...	OMIM:614576
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Elevated circulating...	ORPHA:90060
Vipoma	Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, Dehydration, Epi...	ORPHA:97282
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertension, Type II d...	OMIM:604367
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure	ORPHA:53721
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva...	ORPHA:90793
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t...	ORPHA:811
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Corneal opacity	OMIM:166300
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Rapadilino Syndrome	High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate	OMIM:266280
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Umbilical hernia, Ascites, Abno...	ORPHA:87876
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec...	ORPHA:420741
Gm1 Gangliosidosis	Ventricular septal defect, Congestive heart failure, Splenomegaly, Hepatosplenomegaly, Abnormal h...	ORPHA:354
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity, Blepharitis	OMIM:602400
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea	OMIM:616501
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension, Respiratory ...	OMIM:617021
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive	ORPHA:71
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly	OMIM:617767
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive	OMIM:619868
Nocardiosis	Respiratory distress, Liver abscess, Nonproductive cough, Lymphadenitis, Sepsis, Conjunctivitis, ...	ORPHA:31204
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding...	ORPHA:465
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Dilated cardiomyopathy	ORPHA:70595
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Pneumonia, Edema, Nausea, Intestinal perforation, Abdominal pain, Diarrhea, ...	ORPHA:544482
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D...	ORPHA:85450
Mitchell-Riley Syndrome	Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic...	OMIM:615710
Bloom Syndrome	Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased...	ORPHA:125
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia	OMIM:249270
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Hypoproteinemia	OMIM:260450
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Heart murmur, Palpitations, Hypo...	ORPHA:100079
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Elevat...	ORPHA:93672
Iga Pemphigus	Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess	ORPHA:555905
Keutel Syndrome	Pulmonary arterial hypertension, Recurrent sinusitis	ORPHA:85202
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis, Erythrod...	OMIM:619510
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hepatosplenomegal...	OMIM:608233
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Congestive heart failure, Card...	ORPHA:98908
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Giant cell hepatitis	ORPHA:79095
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure	ORPHA:137608
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Lymphedema, Abdominal pain...	ORPHA:1414
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr...	ORPHA:158029
Acquired Idiopathic Sideroblastic Anemia	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:75564
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Conjunctivitis, Neutropenia, Meningitis, Infectious encephalitis, Ente...	OMIM:300755
Beta-Thalassemia Major	Hepatomegaly, High-output congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Jaundic...	ORPHA:231214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectasis, Macroglossia, F...	OMIM:242860
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia	ORPHA:1267
Porphyria, Acute Intermittent	Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation, Hepatocellular carcinoma, Nausea	OMIM:176000
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Hypotension, Elevated total serum tryptase	ORPHA:98849
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Chilblains, Portal...	OMIM:619487
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele...	OMIM:612964
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Palpebral edema, Gastroesophageal reflux, Esophagitis, Feeding difficulties	ORPHA:79350
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Chédiak-Higashi Syndrome	Edema, Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, A...	ORPHA:167
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Anomalous origin of one pulmonary artery from ascending aorta,...	ORPHA:3384
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Tachypnea, Pulmonary arterial hypertension	OMIM:613320
Sneddon Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:820
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Recurre...	ORPHA:2363
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Cerebral edema	OMIM:608033
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy	OMIM:603736
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Type I diabetes mellitus, Hypertension	ORPHA:1192
Nephronophthisis 16	Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En...	OMIM:615382
Erythermalgia, Primary	Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation	OMIM:133020
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr...	ORPHA:274
Hyperkalemic Periodic Paralysis	Congestive heart failure, Arrhythmia, Elevated circulating creatine kinase concentration	ORPHA:682
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia	ORPHA:1046
Vici Syndrome	Decreased circulating IgG level, Left ventricular hypertrophy, Elevated circulating creatine kina...	OMIM:242840
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Abdominal pain, Diarrhea, Abnor...	OMIM:226300
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Hereditary Folate Malabsorption	Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Gastroesophageal reflux, Failure to thrive, G...	ORPHA:90045
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Fanconi Renotubular Syndrome 5	Hypertension, Decreased DLCO, Pulmonary fibrosis, Hypophosphatemia, Hypophosphatemic rickets, Emp...	OMIM:618913
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, High-output congestive heart failure, Ventricular tachycardia, Cardiomyocy...	ORPHA:423
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Complement Component 5 Deficiency	Intractable diarrhea, Generalized seborrheic dermatitis	OMIM:609536
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper...	OMIM:618213
Pde4D Haploinsufficiency Syndrome	Hypotension	ORPHA:439822
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Apparent Mineralocorticoid Excess	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:218030
20Q13.33 Microdeletion Syndrome	Hematochezia, Small for gestational age, Failure to thrive in infancy, Oligohydramnios	ORPHA:261311
Congenital-Onset Steinert Myotonic Dystrophy	Abdominal pain, Encopresis, Diarrhea, Obesity, Constipation, Gastroesophageal reflux, Dysphagia, ...	ORPHA:589821
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Lipodystrophy, Familial Partial, Type 1	Hypertension, Insulin-resistant diabetes mellitus	OMIM:608600
Monosomy 13Q34	Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis	ORPHA:96168
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Familial Mediterranean Fever	Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic c...	OMIM:249100
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Vitreous hemorrhage, Uveitis, Posterior retinal neovascula...	OMIM:193235
Friedreich Ataxia 2	Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat...	OMIM:601992
Warburg-Cinotti Syndrome	Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness	OMIM:618175
Pseudohypoaldosteronism, Type Iie	Hypertension, Pseudohypoaldosteronism	OMIM:614496
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Skin rash, Gastritis, Myocardi...	ORPHA:809
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity	OMIM:613153
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Eczema, Hypotension	ORPHA:428
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal neovascularization, Corneal scarring	ORPHA:404454
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting	ORPHA:677
Senior-Loken Syndrome	Hypertension	ORPHA:3156
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Atrial fibrillation, Elevated circulating creatine kinase concentr...	ORPHA:254892
Capillary Malformation-Arteriovenous Malformation	Epistaxis, High-output congestive heart failure, Congestive heart failure, Telangiectasia, Abnorm...	ORPHA:137667
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:42642
Spontaneous Periodic Hypothermia	Nausea and vomiting, Diarrhea, Skin rash	ORPHA:29822
Holocarboxylase Synthetase Deficiency	Alopecia, Tachypnea, Skin rash, Hyperventilation	OMIM:253270
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Cataract, Acne, Seborrheic dermatitis, Arthritis, Chronic otitis med...	ORPHA:567
Combined Malonic And Methylmalonic Acidemia	Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding	ORPHA:289504
Multiple Mitochondrial Dysfunctions Syndrome 1	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:605711
Poliomyelitis	Hypertension, Hypovolemic shock, Hypotension, Infectious encephalitis, Myelitis	ORPHA:2912
Immunodeficiency 17	Eczema, Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroent...	OMIM:615607
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Abnormal heart morphology, Hepato...	ORPHA:505248
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Dyspnea, Congestive heart failure, Pulmonary arterial hypertension, H...	ORPHA:220393
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia	ORPHA:228371
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper...	ORPHA:136
Immunodeficiency 67	Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca...	OMIM:607676
Pseudohypoaldosteronism, Type Iic	Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Failure to ...	ORPHA:927
Abdominal Obesity-Metabolic Syndrome 4	Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:618620
Aarskog-Scott Syndrome	Congestive heart failure	ORPHA:915
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:119
Relapsing Polychondritis	Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc...	ORPHA:728
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration	ORPHA:3095
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Pulmona...	ORPHA:363618
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Cataract, Corneal opacity, Pneumonia	ORPHA:309288
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis	OMIM:616719
Beta-Ketothiolase Deficiency	Hypertension, Hypotension, Hepatomegaly	ORPHA:134
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Plague	Glossitis, Chapped lip, Edema, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumon...	ORPHA:707
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Fasciitis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral...	OMIM:123700
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension	ORPHA:447980
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Abnormal circulating enzyme concentration or activity, Neonatal respiratory distre...	ORPHA:79345
Mucopolysaccharidosis Type 1	Sinusitis, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal aort...	ORPHA:579
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Scheie Syndrome	Aortic regurgitation, Rhinitis, Corneal opacity	ORPHA:93474
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dilated card...	ORPHA:255210
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Ge...	OMIM:619183
Cholestasis, Progressive Familial Intrahepatic, 1	Fat malabsorption, Failure to thrive, Diarrhea	OMIM:211600
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Familial Pancreatic Carcinoma	Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ...	ORPHA:1333
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Concentri...	ORPHA:550
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczema, Congestive heart failure, Bronchiectasis, Renovascu...	ORPHA:391487
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Obesity And Hypopigmentation	Red hair	OMIM:620195
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula	OMIM:601110
Paroxysmal Nocturnal Hemoglobinuria 2	Diarrhea, Abdominal pain	OMIM:615399
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension	OMIM:600666
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Osteomyelitis, Keratitis, Corneal scarring, R...	OMIM:256800
Adiposis Dolorosa	Recurrent skin infections, Diarrhea, Xerostomia, Obesity, Arthritis, Constipation	ORPHA:36397
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Concent...	OMIM:610505
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Rh Deficiency Syndrome	Hypoxemia, Increased circulating lactate dehydrogenase concentration, Jaundice, Tachypnea	ORPHA:71275
Intermediate Uveitis	Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Vasculitis, Tubulointersti...	ORPHA:279914
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ...	ORPHA:324636
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur...	ORPHA:204
Hennekam-Beemer Syndrome	Arrhythmia, Telangiectasia of the skin, Pneumonia, Hypotension	ORPHA:2135
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve...	OMIM:186580
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Celiac disease, Abdominal distention, Hepatic failu...	ORPHA:186
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Small for gestational age, Abnormal reproductive system morphology...	ORPHA:1916
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Constipation	ORPHA:254504
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ...	ORPHA:144
Pyruvate Dehydrogenase Deficiency	Dyspnea, Tachypnea	ORPHA:765
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Congenital Disorder Of Glycosylation, Type Iij	Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurrent infection o...	OMIM:613489
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the parathyroid gland...	ORPHA:2552
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency	OMIM:166210
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase conc...	ORPHA:90291
Cholera	Hypovolemic shock, Tachycardia, Hypotension, Aspiration pneumonia	ORPHA:173
Al-Gazali Syndrome	Recurrent pneumonia, Corneal opacity, Sclerocornea	OMIM:609465
Acquired Hypertrichosis Lanuginosa	Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis	ORPHA:2221
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Gastrointest...	ORPHA:91138
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone...	ORPHA:99429
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Listeriosis	Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Congestive heart failure, Peritonit...	ORPHA:533
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Respiratory tract infection, Minimal change glomerulone...	ORPHA:567548
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Blue Rubber Bleb Nevus	Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception	OMIM:112200
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ...	OMIM:611490
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Neutropenia, Failure to thrive, Pancreatitis, ...	ORPHA:79312
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart...	ORPHA:280365
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus	OMIM:616589
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Abnormal lung morphology, Recu...	ORPHA:182
Familial Thrombocytosis	Pulmonary arterial hypertension, Syncope, Cerebral ischemia, Transient ischemic attack	ORPHA:71493
Familial Thyroid Dyshormonogenesis	Bradycardia	ORPHA:95716
Porphyria Due To Ala Dehydratase Deficiency	Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, E...	ORPHA:100924
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atopic derma...	OMIM:601808
Hyperzincemia With Functional Zinc Depletion	Diarrhea, Skin rash	OMIM:601979
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bloody diarrhea, Feeding difficulties	OMIM:615119
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Gastrointestinal inflammation	ORPHA:79410
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Hyperinsulinemia	ORPHA:363400
Immunodeficiency 10	Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections	OMIM:612783
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte...	ORPHA:77296
Refractory Celiac Disease	Villous atrophy, Inflammatory abnormality of the skin, Abdominal pain, Malabsorption, Chronic dia...	ORPHA:398063
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble...	OMIM:187900
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp...	OMIM:175050
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Neoplasm of ...	ORPHA:99867
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility	ORPHA:230839
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal opacity	ORPHA:496790
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Raynaud phenomenon, Punctat...	ORPHA:247691
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym...	OMIM:614162
Intellectual Developmental Disorder, Autosomal Dominant 51	Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Failure to ...	OMIM:617788
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypertension, Tubulointerstitial nephritis, Gout, Hypotension	OMIM:174000
Partial Androgen Insensitivity Syndrome	Fused labia majora, Bifid scrotum, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Hereditary Hyperekplexia	Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:3197
Riboflavin Transporter Deficiency	Hypertension, Hypogonadism, Diabetes insipidus	ORPHA:97229
Lipodystrophy, Familial Partial, Type 6	Hypertension, Diabetes mellitus	OMIM:615980
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia...	OMIM:618253
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Jaundice, Hypovolemia, Hepatosplen...	ORPHA:275761
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Abdominal pain, Pul...	ORPHA:729
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension	OMIM:215600
Glycogen Storage Disease Iv	Cardiomyopathy, Hepatic failure, Portal hypertension, Hepatosplenomegaly	OMIM:232500
Congenital Disorder Of Glycosylation, Type Ih	Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver function, F...	OMIM:608104
Denys-Drash Syndrome	Hypertension	ORPHA:220
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Psoriasiform dermatitis, Palpebral edema, Recurrent urinary tract ...	ORPHA:221139
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch...	ORPHA:1830
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Increased circulating renin level, Palpitations, ...	OMIM:263800
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Hepatitis, Hashimoto thyroiditis, Hypotension	ORPHA:199299
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal...	OMIM:192315
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea	OMIM:615838
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Failure to thrive, Epistaxis, Thyroiditis, Diarrhea, Prolonged bleeding follow...	ORPHA:79259
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca...	ORPHA:59303
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ...	ORPHA:64743
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Periorbital edema, Congestive he...	ORPHA:33226
Focal Segmental Glomerulosclerosis 1	Hypertension	OMIM:603278
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi...	ORPHA:440437
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp...	OMIM:614129
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ...	OMIM:214500
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Elevated cir...	OMIM:164310
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Pannicul...	ORPHA:508542
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Dyspnea, Hypertension, Cerebral ischemia, Pulmonary arterial hypertension	OMIM:242900
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Hurler-Scheie Syndrome	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:607015
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Decreased circulating ceruloplasmin concen...	ORPHA:48818
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Sneddon Syndrome	Hypertension, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Martsolf Syndrome 1	Cardiomyopathy, Cardiac arrest, Congestive heart failure	OMIM:212720
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:256040
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Recurrent skin infections, Dilated cardiomyopathy, Hypoalbuminemia	ORPHA:89842
Tetrasomy 5P	Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Heart murmur	ORPHA:3309
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric tube feeding	OMIM:607906
Immunodeficiency 54	Hepatomegaly, Failure to thrive, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopath...	OMIM:609981
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art...	OMIM:616482
Satoyoshi Syndrome	Diarrhea, Malabsorption	OMIM:600705
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Elevated circulating creatine kinase concentration, Decreased liver function	OMIM:618839
Pseudo-Torch Syndrome 2	Bradycardia, Cerebral hemorrhage	OMIM:617397
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Weight loss	ORPHA:33276
Ciliary Dyskinesia, Primary, 37	Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea	OMIM:617577
Lcat Deficiency	Corneal opacity	ORPHA:650
Medullary Thyroid Carcinoma	Diarrhea, Weight loss, Dysphagia	ORPHA:1332
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618775
Osteogenesis Imperfecta, Type Iii	Pulmonary arterial hypertension	OMIM:259420
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	OMIM:608643
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato...	ORPHA:99931
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o...	ORPHA:117
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Congestive heart failure, Jaundice, Elevated circulating alkaline ...	OMIM:617156
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Increased iduronate sulfatase level, Increased serum beta-hex...	OMIM:252500
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis...	ORPHA:1304
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eczema, Glomerulonephritis, Chronic diarrhea, Ileus, Hepatitis, Arthritis, Eryth...	OMIM:304790
Blue Diaper Syndrome	Diarrhea, Increased body weight	ORPHA:94086
Ethylmalonic Encephalopathy	Diarrhea, Failure to thrive	ORPHA:51188
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Spider h...	ORPHA:171
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Apparent Mineralocorticoid Excess	Hypertension, Decreased circulating aldosterone level, Abnormality of circulating cortisol level,...	ORPHA:320
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent skin infections, Eczema, Keratitis, Erythroderma, Hypertension, Opacification of the co...	OMIM:308205
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration	OMIM:253700
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Os...	ORPHA:342
Acute Adrenal Insufficiency	Orthostatic hypotension, Myocardial infarction, Hypovolemia, Increased circulating renin level, H...	ORPHA:95409
Short Stature, Microcephaly, And Endocrine Dysfunction	Dilated cardiomyopathy	OMIM:616541
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation	OMIM:173900
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension	OMIM:615474
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Supernumerary nipple, Tac...	ORPHA:397715
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurr...	OMIM:619575
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension	ORPHA:567544
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy...	ORPHA:85443
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating renin level, Hypotension	ORPHA:90791
Ciliary Dyskinesia, Primary, 20	Productive cough, Recurrent pneumonia, Bronchiectasis, Aortic valve stenosis, Respiratory insuffi...	OMIM:615067
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Syndromic Diarrhea	Aortic regurgitation, Villous atrophy, Gastritis, Small for gestational age, Bloody diarrhea, Col...	ORPHA:84064
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran...	ORPHA:268
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis, Developmental cataract	OMIM:617044
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Ventricular septal defect, Eczema, Congest...	ORPHA:506
Bartter Syndrome, Type 3	Increased circulating renin level, Hypotension	OMIM:607364
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul...	OMIM:619708
Bile Acid Malabsorption, Primary, 2	Chronic diarrhea, Steatorrhea	OMIM:619481
Galactosemia I	Diarrhea, Failure to thrive, Vomiting, Decreased liver function	OMIM:230400
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mitral regurgitation, Dilated cardiomyopathy, Mildly elevated creatine kinase, Mitral valve prolapse	OMIM:607459
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis, Cherry red spot of the macula, Failure to thrive	OMIM:228000
Geleophysic Dysplasia 2	Tricuspid stenosis, Respiratory insufficiency, Mitral regurgitation, Aortic valve stenosis, Pulmo...	OMIM:614185
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor...	ORPHA:1855
Microphthalmia With Brain And Digit Anomalies	Microcornea, Cataract, Iris coloboma, Sclerocornea	ORPHA:139471
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre...	OMIM:301078
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia	OMIM:613327
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Elevated circulating creatine kinase concentration, Hepatic failure, ST se...	ORPHA:466650
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Hyp...	OMIM:607944
Ppoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97278
Joubert Syndrome With Oculorenal Defect	Tachypnea, Apnea, Highly arched eyebrow	ORPHA:2318
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Skin rash, Edema, Anorexia, Abdom...	ORPHA:761
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Arthritis, Cerebral ischemia, Arrhythm...	ORPHA:397
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Pituitary Apoplexy	Hypertension, Hypotension	ORPHA:95613
Celiac Disease, Susceptibility To, 1	Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Weight loss,...	OMIM:212750
Stiff Skin Syndrome	Hypertension, Type II diabetes mellitus	ORPHA:2833
Paroxysmal Hemicrania	Hypertension, Diabetes mellitus	ORPHA:157835
Erdheim-Chester Disease	Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Congestive heart failure, Abnorma...	ORPHA:35687
Hepatic Lipase Deficiency	Corneal arcus, Angina pectoris	OMIM:614025
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Peters anomaly	OMIM:120200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Card...	ORPHA:228308
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy	ORPHA:158687
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Respiratory insufficiency, Cardiomyopathy, Respiratory failure, Reduced left ven...	ORPHA:258
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Cardiomyopathy, Abnormal circulating creatine kinase concentration	ORPHA:521411
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Overlap Myositis	Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension	ORPHA:206572
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Small for gestational age, Thrombocytopenia, Mi...	OMIM:606003
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphol...	ORPHA:79282
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Supraventricular tachycardia, Tricuspid regurgitat...	ORPHA:97214
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Skin rash, Failure to thrive in infancy, Abdominal pain, Diarrhea, Chronic diarrhea, Panniculitis	OMIM:617099
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h...	OMIM:177850
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold...	ORPHA:586
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Neonatal sepsis, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Increased ...	ORPHA:90790
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Abnormal circulating enzyme concentration or activity, Congestive heart failure, Recurrent pneumo...	ORPHA:1900
Coenzyme Q10 Deficiency, Primary, 8	Hypertension	OMIM:616733
Kagami-Ogata Syndrome	Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:608149
Cogan Syndrome	Aortic regurgitation, Episcleritis, Keratitis, Vasculitis, Large vessel vasculitis, Uveitis, Scle...	ORPHA:1467
Thrombotic Thrombocytopenic Purpura	Diarrhea, Abdominal pain	ORPHA:54057
Extracranial Carotid Artery Aneurysm	Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis	ORPHA:494424
Cog4-Cdg	Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ...	ORPHA:263501
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Acrodermatitis Enteropathica	Poor appetite, Malabsorption, Anorexia, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We...	ORPHA:37
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Sialidosis Type 1	Cataract, Corneal opacity	ORPHA:812
Alexander Disease	Hypotension, Hypertension, Infectious encephalitis, Sudden cardiac death	ORPHA:58
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphad...	OMIM:257200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormal lung morphology, Weight loss, Anemia	ORPHA:54251
Triosephosphate Isomerase Deficiency	Splenomegaly, Congestive heart failure, Jaundice, Cholecystitis, Prolonged neonatal jaundice	OMIM:615512
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Eczema, Sclerocornea, Iris hypopigmentation	ORPHA:284160
D-Glyceric Aciduria	Bradycardia	OMIM:220120
Lissencephaly, X-Linked, 2	Feeding difficulties in infancy, Diarrhea, High palate	OMIM:300215
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis	OMIM:231050
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension	ORPHA:93256
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Abnormal respiratory system p...	ORPHA:98905
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Nephronophthisis 18	Hypertension	OMIM:615862
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc...	ORPHA:824
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Morbilliform rash, Cough, Abscess, Abnormality o...	ORPHA:228123
Mucolipidosis Iii Gamma	Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma	OMIM:252605
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
17Q23.1Q23.2 Microdeletion Syndrome	Dyspnea, Pulmonary arterial hypertension	ORPHA:261279
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia	OMIM:616449
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog...	ORPHA:85212
Cholestasis, Progressive Familial Intrahepatic, 6	Failure to thrive, Chronic diarrhea	OMIM:619484
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activity, Cardiomegaly, Hepato...	OMIM:268800
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin...	OMIM:612714
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Mednik Syndrome	Volvulus, Jejunal atresia, Microcolon, Diarrhea	OMIM:609313
Encephalopathy, Ethylmalonic	Failure to thrive, Chronic diarrhea, Feeding difficulties	OMIM:602473
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Recurrent intrapulmon...	ORPHA:900
Coach Syndrome 2	Hypertension	OMIM:619111
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Keratoconjun...	ORPHA:14
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Edema, Malabsorption, Seborrheic ...	ORPHA:2796
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Portal hypertension	ORPHA:974
Werner Syndrome	Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Pulmonary artery ste...	ORPHA:902
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis	OMIM:608654
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Insulin-Resistance Syndrome Type B	Skin rash, Pneumonia, Abnormality of body weight, Abnormal circulating leptin concentration, Oste...	ORPHA:2298
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss	ORPHA:1842
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum...	ORPHA:424016
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Hyperprolinemia Type 2	Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia	ORPHA:79101
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Polyhydra...	ORPHA:2241
Congenital Sialidosis Type 2	Abnormal EKG, Cataract, Corneal opacity, Telangiectasia, Developmental cataract	ORPHA:93400
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Diarrhea, Gastritis	ORPHA:2575
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Alg8-Cdg	Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult...	ORPHA:79325
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia	ORPHA:565624
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure	ORPHA:2505
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia	ORPHA:75233
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension	OMIM:618061
Joubert Syndrome	Apnea, Episodic tachypnea, Highly arched eyebrow, Abnormal pattern of respiration	ORPHA:475
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Tachypnea, Hypertension, Mitral regurgitation, Hypertrophic cardiomyop...	OMIM:220111
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, ...	OMIM:212065
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati...	OMIM:208540
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism	ORPHA:745
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Infantile Systemic Hyalinosis	Telangiectasia of the skin, Lymphedema, Recurrent bacterial infections, Abnormality of the adrena...	ORPHA:2176
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir...	ORPHA:98897
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma...	ORPHA:537
Somatostatinoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97283
Cholesteryl Ester Storage Disease	Acute hepatic failure, Failure to thrive, Diarrhea, Esophageal varix, Vomiting, Protuberant abdom...	OMIM:278000
Juvenile Xanthogranuloma	Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis	ORPHA:158000
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Tachypnea, Hepatitis, Decreased liver function, Hepatic failure	ORPHA:415
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M...	OMIM:615508
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Corneal opacity	ORPHA:357058
Glucagonoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Anorexia, Po...	ORPHA:97280
Behcet Syndrome	Raynaud phenomenon, Iridocyclitis, Erythema nodosum, Epididymitis, Arthritis, Iritis, Hypopyon	OMIM:109650
Stiff-Person Syndrome	Hypertension, Tachycardia, Diabetes mellitus	OMIM:184850
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, A...	OMIM:146255
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Tachypnea, Pulmonary arterial hypertension	OMIM:613834
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Prost...	ORPHA:1546
Grfoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97261
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Corneal opacity, Developmental cataract	OMIM:616603
Wagro Syndrome	Aniridia, Hypertension, Cataract, Corneal opacity	OMIM:612469
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Diarrhea, Failure to thrive, Vomiting	OMIM:560000
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pleural effusio...	ORPHA:2905
Fg Syndrome Type 1	Pulmonary arterial hypertension	ORPHA:93932
Autoimmune Polyendocrinopathy Type 1	Chronic mucocutaneous candidiasis, Cataract, Opacification of the corneal stroma	ORPHA:3453
Oculoauricular Syndrome	Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ...	OMIM:612109
Gitelman Syndrome	Prolonged QT interval, Hashimoto thyroiditis, Raynaud phenomenon, Pericardial effusion, Low-to-no...	ORPHA:358
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia	OMIM:613870
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Esophageal Atresia	Barrett esophagus, Small for gestational age, Intestinal malrotation, Polyhydramnios, Failure to ...	ORPHA:1199
Prolactinoma	Hypotension	ORPHA:2965
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Boutonneuse Fever	Skin rash, Maculopapular exanthema, Abdominal pain, Diarrhea, Nausea	ORPHA:83313
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion...	ORPHA:1764
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Myocardial infarction, S...	ORPHA:36426
Immunodeficiency, Common Variable, 14	Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis	OMIM:617765
Glycogen Storage Disease Ic	Stomatitis, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Inflammation of the larg...	OMIM:232240
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di...	OMIM:162300
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Failure to thrive in infan...	OMIM:612852
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenopath...	OMIM:617591
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ...	ORPHA:562639
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmona...	ORPHA:1655
Congenital Myopathy 20	Failure to thrive, Chronic diarrhea, High palate	OMIM:620310
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Fumarase Deficiency	Necrotizing enterocolitis, Failure to thrive, Polyhydramnios, High palate, Hepatic failure, Ascites	OMIM:606812
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se...	OMIM:619377
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Atrial septal defec...	OMIM:617403
Glycogen Storage Disease Ib	Gout, Hypertension, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carc...	OMIM:232220
Juvenile Sialidosis Type 2	Cataract, Corneal opacity	ORPHA:93399
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Recurrent pneumonia	OMIM:616271
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:615812
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Panniculitis, Weight loss	ORPHA:33577
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Peutz-Jeghers Syndrome	Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi...	OMIM:175200
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Perrault Syndrome 4	Increased circulating gonadotropin level, Obesity, Hypoplasia of the uterus, Hypoplasia of the ov...	OMIM:615300
Immunodeficiency, Common Variable, 7	Chronic diarrhea	OMIM:614699
C3 Glomerulopathy	Hypertension	ORPHA:329918
Autoimmune Lymphoproliferative Syndrome	Abnormal bleeding, Gastritis, Glomerulonephritis, Vasculitis, Hydrops fetalis, Uveitis, Hepatitis...	ORPHA:3261
Cystinosis	Corneal opacity, Portal hypertension	ORPHA:213
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Stridor, Pulmonary arterial hypertension, Prolonged QT interval	OMIM:620029
Apolipoprotein A-I Deficiency	Angina pectoris, Opacification of the corneal stroma	ORPHA:425
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Congestive heart failure, Dilatation of the ventricular ca...	ORPHA:90349
Lowry-Maclean Syndrome	Developmental glaucoma, Megalocornea, Corneal opacity	ORPHA:2409
Immunodeficiency 9	Stomatitis, Failure to thrive, Chronic diarrhea, Recurrent aphthous stomatitis	OMIM:612782
Antiphospholipid Syndrome, Familial	Keratitis, Scleritis, Iritis	OMIM:107320
Zellweger Syndrome	Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract	ORPHA:912
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Pneumonia, Cardiomyopathy, Restrictive ventilatory defect, Mitral regurg...	OMIM:253200
Nestor-Guillermo Progeria Syndrome	Dyspnea, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypert...	OMIM:614008
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent skin infections, Pneumonia, Edema, Esophageal stricture, Dilated cardiomyopathy, Malnut...	ORPHA:79404
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Hypersplenism, Thrombocytopenia, ...	ORPHA:77259
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Cardiomyopathy, Dilatation of the ventricular cavity, Elevated circulating creatine kinase concen...	ORPHA:363623
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
B4Galt1-Cdg	Inflammatory abnormality of the skin, Small for gestational age, Diarrhea	ORPHA:79332
Vaginal Atresia	Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di...	ORPHA:65681
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Abnormal left ventricular function, Astigmatism, Corneal opacity, Pulmonic stenosis	OMIM:301056
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis...	ORPHA:90062
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Sparse l...	ORPHA:314655
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein c...	ORPHA:50918
Wilson Disease	Kayser-Fleischer ring, Acute hepatitis, Hepatitis, Arthritis	ORPHA:905
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras...	ORPHA:93552
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Mitral regurgitation, Pulmonic stenosis, Aor...	OMIM:608328
Incontinentia Pigmenti	Cataract, Corneal opacity, Telangiectasia of the skin, Skin rash, Keratitis, Congestive heart fai...	ORPHA:464
Walker-Warburg Syndrome	Microcornea, Cataract, Corneal opacity, Iris coloboma	ORPHA:899
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis	ORPHA:210122
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Glomus ...	OMIM:115310
Cystic Fibrosis	Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bronchiectasis, Diarrhea, Steatorrhe...	OMIM:219700
Juvenile Paget Disease	Hypertension	ORPHA:2801
Lassa Fever	Nausea and vomiting, Abdominal pain, Diarrhea, Conjunctivitis, Dysphagia	ORPHA:99824
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam...	ORPHA:556
Monosomy 18P	Hypertension, Hypothyroidism	ORPHA:1598
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Classic Galactosemia	Diarrhea, Hepatic failure, Vomiting, Feeding difficulties	ORPHA:79239
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce...	OMIM:602782
Multiple Sulfatase Deficiency	Cataract, Corneal opacity	ORPHA:585
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Intestinal malrotation, Portal hypertension, Hepatic failure, Microcolon, Oligohydramnios	OMIM:619431
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Mucopolysaccharidosis Type 7	Corneal opacity, Hepatitis	ORPHA:584
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Ochoa Syndrome	Hypertension	ORPHA:2704
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypovolemia, Increased circulating renin level, Hypotension	ORPHA:168558
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnormal cardiovascular system physiology,...	ORPHA:79086
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Dilated cardiomyopathy, Mitral valve prolapse, Hypertrophic cardiomyopat...	ORPHA:2556
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Tachypnea	OMIM:615751
Paroxysmal Cold Hemoglobinuria	Nausea and vomiting, Diarrhea	ORPHA:90035
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypovolemia, Increased circulating renin level, Hypotension	ORPHA:289548
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Neonatal respiratory distress, Recurrent aspiration pneumonia, Recurre...	ORPHA:79243
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Congenital hypoparathyroidism, Decreased response to growth hormo...	OMIM:241410
Addison Disease	Orthostatic hypotension, Increased circulating renin level, Hashimoto thyroiditis, Hypotension	ORPHA:85138
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension, Hypothyroidism	OMIM:617763
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Middle Ear Neuroendocrine Tumor	Chronic diarrhea	ORPHA:100084
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter...	ORPHA:2237
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Arthrit...	ORPHA:221
Microgastria-Limb Reduction Defect Syndrome	Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tra...	ORPHA:2538
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Congenital hypoparathyroidism, Anemia	OMIM:244460
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, Diarrhea, Chronic muc...	OMIM:240300
Nephroblastoma	Hypertension	ORPHA:654
15Q Overgrowth Syndrome	Pulmonary arterial hypertension, Mitral regurgitation, Tricuspid regurgitation	ORPHA:314585
Nephronophthisis 2	Hypertension, Pulmonary insufficiency	OMIM:602088
Heme Oxygenase 1 Deficiency	Hypertension, Epistaxis, Diffuse alveolar hemorrhage	OMIM:614034
Hypercholesterolemia, Familial, 3	Corneal arcus	OMIM:603776
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A...	ORPHA:758
Carcinoid Syndrome	Nausea and vomiting, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, Small in...	ORPHA:100093
Double Outlet Right Ventricle	Pulmonary artery atresia, Tachypnea	ORPHA:3426
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio...	ORPHA:79430
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Chronic diarrhea, Recurrent pneumonia	OMIM:619824
3Q29 Microdeletion Syndrome	Pulmonary arterial hypertension	ORPHA:65286
Pelvis-Shoulder Dysplasia	Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis	OMIM:207750
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Portal hypertension, Tachypnea, Abnormal pulmonary interstitial mo...	OMIM:613658
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Failure to thrive, Reduced circulating growth hormone concentration,...	OMIM:616430
Hypercholesterolemia, Familial, 1	Corneal arcus	OMIM:143890
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Hallermann-Streiff Syndrome	Recurrent pneumonia, Telangiectasia, Hypertension, Tracheomalacia, Pulmonary arterial hypertension	OMIM:234100
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Transient ischemic attack, E...	ORPHA:365
Pituitary Adenoma 4, Acth-Secreting	Hypertension, Pituitary adenoma, Increased circulating ACTH level	OMIM:219090
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia	ORPHA:464738
Normosmic Congenital Hypogonadotropic Hypogonadism	Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi...	ORPHA:432
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Acute respiratory distress syndrome, Portal hypertension, Wheezing, Respiratory insufficiency, Co...	OMIM:620005
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Apnea, Respiratory insufficiency	OMIM:601559
Marshall-Smith Syndrome	Apnea, Premature ventricular contraction, Stridor, Hypertension, Aspiration pneumonia, Pulmonary ...	OMIM:602535
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Carey-Fineman-Ziter Syndrome 1	Pulmonary arterial hypertension, Respiratory insufficiency	OMIM:254940
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Obesity	ORPHA:247768
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Abnormal circulating ceruloplasmin concentration, Cardiomegaly	OMIM:620306
Neonatal Inflammatory Skin And Bowel Disease	Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Anal fissure, Pustule,...	ORPHA:294023
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ...	ORPHA:469
Hurler Syndrome	Aortic regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Opacification of the...	OMIM:607014
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism	ORPHA:743
Goodpasture Syndrome	Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restr...	OMIM:233450
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Diarrhea, Vomiting, Increased body weight, Large for gestational age	ORPHA:263455
Hyperparathyroidism, Neonatal Severe	Dyspnea, Tachypnea	OMIM:239200
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast...	ORPHA:3463
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int...	OMIM:608594
Neuroblastoma, Susceptibility To, 1	Weight loss, Diarrhea, Failure to thrive, Abdominal pain	OMIM:256700
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Respiratory tract infection, Dyspnea, Hyperlipidemia, Minimal change glomerul...	ORPHA:567546
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma	OMIM:253010
Arteriosclerosis, Severe Juvenile	Hypertension, Myocardial infarction, Delayed puberty	OMIM:208060
Satoyoshi Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ...	ORPHA:3130
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Keratitis, Myocarditis, Congestive heart failure, Splen...	ORPHA:3385
Sarcoidosis, Susceptibility To, 1	Anorexia, Pericardial effusion, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arthritis, I...	OMIM:181000
Cryoglobulinemia, Familial Mixed	Hypertension	OMIM:123550
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Secretory diarrhea, Seborrheic dermatitis	OMIM:614441
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration...	ORPHA:35069
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Aspiration pneumonia, Cough	ORPHA:216866
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
Farber Disease	Arthritis, Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma	ORPHA:333
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
Proximal Spinal Muscular Atrophy	Bradycardia	ORPHA:70
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Facial edema, Dyspnea, ...	ORPHA:293173
Hypercholesterolemia, Familial, 2	Corneal arcus	OMIM:144010
Dpm1-Cdg	High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy	ORPHA:79322
3Q29 Microduplication Syndrome	Aniridia, Cataract, Iris coloboma, Sclerocornea	ORPHA:251038
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Alagille Syndrome 2	Hypertension, Pulmonic stenosis	OMIM:610205
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum, Lymphedema	OMIM:300291
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab...	ORPHA:90362
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Atrial fibrillation, Prolonged QRS complex, Left ventricular systo...	ORPHA:273
Bardet-Biedl Syndrome	Hypertension, Hypoplasia of the ovary, Hypogonadism	ORPHA:110
Fucosidosis	Corneal opacity	ORPHA:349
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Omphalocele, Small for gestational age, Elevated circulating luteinizing hormon...	OMIM:618419
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	ORPHA:2388
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar...	ORPHA:95455
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Immunodeficiency 59 And Hypoglycemia	Recurrent skin infections, Malabsorption, Herpes simplex encephalitis, Chronic diarrhea, High pal...	OMIM:233600
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Neoplasm of the l...	ORPHA:100085
Pagod Syndrome	Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Optic atrophy, Agonadism...	ORPHA:991
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Houge-Janssens Syndrome 1	Pyloric stenosis, Chronic diarrhea	OMIM:616355
Combined Immunodeficiency-Enteropathy Spectrum	Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Ga...	ORPHA:436252
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Bidirectional shunt, Elevated p...	OMIM:619351
Developmental Delay With Or Without Dysmorphic Facies And Autism	Pulmonary arterial hypertension, Laryngotracheomalacia	OMIM:618454
Atypical Werner Syndrome	Diabetes mellitus, Telangiectasia of the skin, Abnormal circulating leptin concentration, Congest...	ORPHA:79474
Scalp-Ear-Nipple Syndrome	Cardiac myxoma, Congestive heart failure, Pyelonephritis, Hypertension, Supraventricular tachycardia	OMIM:181270
Classic Homocystinuria	Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh...	ORPHA:394
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Esophageal varix, Hepatocellular adenoma, Increased body weight, Vomiting, Failure to t...	ORPHA:264580
Gaucher Disease, Type Ii	Apnea, Thrombocytopenia, Splenomegaly, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurren...	OMIM:230900
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content	OMIM:214700
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ascites, Anemia	OMIM:608013
Leukocyte Adhesion Deficiency Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Severe periodontitis, Palpebr...	ORPHA:99843
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Chromosome 6Pter-P24 Deletion Syndrome	Telangiectasia, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular ant...	OMIM:612582
Lymphatic Malformation 13	Pulmonary arterial hypertension, Mitral regurgitation, Chronic lung disease	OMIM:620244
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I...	ORPHA:90340
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F...	OMIM:618050
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Elevated he...	OMIM:269700
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Hyper-Igd Syndrome	Skin rash, Abdominal pain, Lymphadenitis, Diarrhea, Chronic diarrhea, Arthritis, Vomiting, Chroni...	OMIM:260920
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Shwachman-Diamond Syndrome 2	Diarrhea, High palate, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency	OMIM:617941
Tangier Disease	Myocardial infarction, Opacification of the corneal stroma	OMIM:205400
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Opacification of the corneal stroma	OMIM:313400
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ocular albinism, Cataract, Corneal opacity, Iris hypopigmentation	ORPHA:2719
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Hypertension	ORPHA:449291
19P13.13 Microdeletion Syndrome	Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult...	ORPHA:357001
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Premature thelarche, Atrioventricular block, Hypertension, Type I diabetes mellitus, Nodular goiter	ORPHA:371428
Multiple Sulfatase Deficiency	Corneal opacity	OMIM:272200
Kaposiform Lymphangiomatosis	Pericardial effusion, Splenomegaly, Thrombocytopenia, Pancreatic cysts, Abnormality of the lympha...	ORPHA:464329
Joubert Syndrome 1	Central apnea, Neonatal breathing dysregulation, Episodic tachypnea, Highly arched eyebrow	OMIM:213300
Chops Syndrome	Curly hair, Chronic lung disease, Thick hair, Synophrys, Anomalous pulmonary venous return, Coars...	OMIM:616368
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Splenomegaly, Recurrent infections,...	OMIM:300972
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Small for gestational age, Weight loss	ORPHA:424
Schwartz-Jampel Syndrome	Pulmonary arterial hypertension, Arrhythmia, Apnea, Respiratory insufficiency	ORPHA:800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Vomiting	OMIM:223900
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Young-Onset Parkinson Disease	Diarrhea, Constipation, Nausea, Gastroparesis	ORPHA:2828
Multiple Endocrine Neoplasia, Type I	Diarrhea, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis	OMIM:131100
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Congenital contracture	OMIM:619036
Diamond-Blackfan Anemia 7	Recurrent otitis media, Esophagitis, Polyhydramnios, Cleft palate	OMIM:612562
Renal Hypodysplasia/Aplasia 1	Hypertension	OMIM:191830
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time, Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:1901
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Pneumonia, Polyhydramnios, Thrombocytopeni...	OMIM:603467
Lead Poisoning	Hypertension, Decreased circulating osteocalcin level, Delayed puberty	ORPHA:330015
Mucopolysaccharidosis Type 6	Chronic otitis media, Sinusitis, Opacification of the corneal stroma	ORPHA:583
Acute Intermittent Porphyria	Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi...	ORPHA:79276
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Anal fissure, Glomerulonephritis, Dilated cardiomyopathy, Malnutrition...	ORPHA:79408
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, P...	OMIM:154700
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Skin rash, Failure to thrive in infancy, Pustule, Chronic diarrhea, Acute otitis media, Recurrent...	ORPHA:35078
Localized Scleroderma	Fasciitis, Raynaud phenomenon, Vasculitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagit...	ORPHA:90289
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Diarrhea, Hepatocellular adenoma, Increased body weight, Vomiting, Hepatocellular carcinoma, Nausea	ORPHA:79240
Stromme Syndrome	Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma	OMIM:243605
Maternal Uniparental Disomy Of Chromosome 4	Fat malabsorption, Malnutrition, Diarrhea, Decreased body weight	ORPHA:96180
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis	OMIM:238600
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diarrhea, Vomiting, Atopic dermatitis	ORPHA:3240
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Pulmonary arterial hypertension, Recurrent aspiration pneumonia	ORPHA:280633
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph...	ORPHA:95699
Transcobalamin Ii Deficiency	Diarrhea, Failure to thrive, Vomiting	OMIM:275350
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta...	ORPHA:90348
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Failure to thrive, Poor appetite	OMIM:201100
Joubert Syndrome 2	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:608091
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis, Failure to thrive	ORPHA:79351
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Feeding difficulties, Esophagitis, Oligohydramnios	ORPHA:541423
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Aspiration pneumo...	ORPHA:444077
Mucopolysaccharidosis, Type Iiic	Diarrhea, Dysphagia	OMIM:252930
Immunodeficiency 25	Recurrent pneumonia, Erythroderma, Protracted diarrhea	OMIM:610163
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Hurler Syndrome	Corneal opacity, Angina pectoris, Cardiomyopathy, Hypertension, Rhinitis	ORPHA:93473
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypoxemia, Pulmonary arterial hypertension	ORPHA:2282
Developmental And Epileptic Encephalopathy 50	Diarrhea, Failure to thrive, Dysphagia	OMIM:616457
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia	ORPHA:90674
Diamond-Blackfan Anemia 1	Atrial septal defect, Congestive heart failure, Ventricular septal defect, Tricuspid stenosis	OMIM:105650
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Mucopolysaccharidosis, Type Vii	Recurrent otitis media, Cardiomyopathy, Corneal opacity	OMIM:253220
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Pulmonary embolism	ORPHA:624
Citrullinemia Type Ii	Pancreatitis, Diarrhea, Vomiting, Hepatocellular carcinoma, Decreased body mass index	ORPHA:247585
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent...	ORPHA:2131
X-Linked Intellectual Disability, Nascimento Type	Pulmonary arterial hypertension, Mitral stenosis	ORPHA:163956
Mevalonic Aciduria	Skin rash, Failure to thrive in infancy, Diarrhea, Vomiting, Morbilliform rash, Failure to thrive	OMIM:610377
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Oligohydramnios	OMIM:263200
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Abnormality o...	ORPHA:68
Lysinuric Protein Intolerance	Glomerulonephritis, Decreased response to growth hormone stimulation test, Thrombocytopenia, Intr...	ORPHA:470
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Macular atrophy, Microvesicular hep...	OMIM:619418
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic...	ORPHA:740
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Caudal Regression Syndrome	Hypertension, Maternal diabetes	ORPHA:3027
Moebius Syndrome	Corneal opacity, Blepharitis	ORPHA:570
Methylcobalamin Deficiency Type Cble	Hypertension	ORPHA:2169
Coach Syndrome 1	Hypertension, Portal hypertension	OMIM:216360
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis...	ORPHA:30391
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Sclerocornea	OMIM:613001
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Highly arched eyebrow	ORPHA:2754
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture	OMIM:225400
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Feeding difficulties in infancy, Overweight, Chronic diarrhea, Chronic constipation, Gastroesopha...	ORPHA:500055
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea	OMIM:236670
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los...	ORPHA:1018
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Failure to thrive, Small for gestational age, Anorexia, Malabsorption, Chronic d...	OMIM:557000
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypertension, Hyperaldosteronism, Increased circulating renin level	OMIM:612780
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Poor appetite, Feeding difficulties in infancy, High, narrow palate, C...	ORPHA:96182
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Failure to thrive in infancy, Feeding difficulties in infancy, Chronic diarrhea, Hepatitis, Gastr...	OMIM:613385
Johanson-Blizzard Syndrome	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:243800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Acne, Hypovolemia, Hypotension	ORPHA:90794
1P36 Deletion Syndrome	Abnormal heart valve morphology, Dilated cardiomyopathy, Telangiectasia, Abnormal cardiac septum ...	ORPHA:1606
Mucopolysaccharidosis, Type Iiia	Diarrhea	OMIM:252900
Estrogen Resistance	Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries	OMIM:615363
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pu...	OMIM:608710
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hypertension	OMIM:612924
Microphthalmia, Syndromic 9	Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multilobulated spleen, Hypoplas...	OMIM:601186
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Cataract, Corneal opacity, Pneumonia, Mitral regurgitation, Astigmatism, Ot...	ORPHA:309282
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes	OMIM:248500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated hepatic transaminase, Osteomyelitis, Ventricular septal defect, Bi...	OMIM:619475
Porphyria Variegata	Inappropriate antidiuretic hormone secretion, Hypertension, Tachycardia	ORPHA:79473
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension	OMIM:614424
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di...	ORPHA:99228
Monosomy X	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di...	ORPHA:881
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Secretory diarrhea, Seborrheic dermatitis	OMIM:167100
Lipodystrophy, Familial Partial, Type 2	Hypertension, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus	OMIM:151660
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hypertension	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hypertension	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hypertension	OMIM:612926
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Bifid uterus	ORPHA:2736
Low Phospholipid-Associated Cholelithiasis	Hypertension, Diabetes mellitus	ORPHA:69663
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Adenine Phosphoribosyltransferase Deficiency	Hypertension, Atrial fibrillation	ORPHA:976
Focal Dermal Hypoplasia	Telangiectasia of the skin, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Iris coloboma	ORPHA:2092
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo...	OMIM:607872
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Atrioventricular block, Reduced left ventricular ejection fraction, Op...	ORPHA:581
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Chilblains, Cardiomegaly, Raynaud phenomenon, Hepatosple...	ORPHA:51
Livedoid Vasculopathy	Diabetes mellitus, Telangiectasia of the skin, Hypertension, Ischemic stroke, Graves disease	ORPHA:542643
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio...	ORPHA:99829
Hallermann-Streiff Syndrome	Congestive heart failure, Uveitis	ORPHA:2108
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Arrhythmia, Microcolon	ORPHA:163746
Reynolds Syndrome	Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Lip telangiectasia, Palmar tel...	OMIM:613471
Gaisböck Syndrome	Diabetes mellitus, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood ...	ORPHA:90041
Alport Syndrome 2, Autosomal Recessive	Hypertension	OMIM:203780
Paternal Uniparental Disomy Of Chromosome 1	Hypertension, Delayed puberty	ORPHA:251004
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Aortic valve stenosis	ORPHA:2396
Tbck-Related Intellectual Disability Syndrome	Corneal opacity, Eczema, Pulmonic stenosis	ORPHA:488632
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Sarcoidosis	Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Uveitis, ...	ORPHA:797
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Tricuspid regurgitation, Mitral stenosis, Tricuspid stenosis, Mitral regurg...	OMIM:143095
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension	OMIM:619758
Geleophysic Dysplasia 3	Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure, Mitral regurgitation	OMIM:617809
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Keratoconjunc...	OMIM:601675
Marfan Syndrome	Congestive heart failure, Mitral valve calcification, Arthralgia/arthritis, Mitral valve prolapse	ORPHA:558
Degcags Syndrome	Tachycardia, Pneumonia, Asthma, Rhinitis, Pulmonic stenosis, Tracheomalacia, Pulmonary arterial h...	OMIM:619488
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Alagille Syndrome	Hypertension, Telangiectasia of the skin, Delayed puberty	ORPHA:52
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Arrhythmia	OMIM:250220
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abdominal distention, Microcolon	OMIM:619362
Birk-Landau-Perez Syndrome	Hypertension	OMIM:617595
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Abnormal dental enamel morphology, Testi...	ORPHA:744
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Optic nerve hypoplasia, Vaginal atresia	OMIM:617914
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:904
Herpes Simplex Virus Encephalitis	Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia, Cerebral edema	ORPHA:1930
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr...	ORPHA:653
Lysinuric Protein Intolerance	Protein avoidance, Pancreatitis, Diarrhea, Malnutrition, Truncal obesity, Vomiting, Failure to th...	OMIM:222700
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericard...	ORPHA:77261
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hypertension	OMIM:612925
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypertension	OMIM:613095
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Hypothyroidism	ORPHA:98808
Nephronophthisis 1	Hypertension	OMIM:256100
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Corneal opacity, Eczema, Keratitis, Corneal erosion, Cheilitis, Uveitis, Scleritis,...	ORPHA:2273
Pyruvate Carboxylase Deficiency	Tachypnea, Abnormal pattern of respiration	ORPHA:3008
Bohring-Opitz Syndrome	Bradycardia	ORPHA:97297
Psoriasis 14, Pustular	Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis	OMIM:614204
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity	OMIM:601812
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma	OMIM:251290
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu...	ORPHA:79443
Pitt-Hopkins Syndrome	Aganglionic megacolon, Hiatus hernia, Feeding difficulties, Constipation, Gastroesophageal reflux...	ORPHA:2896
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat...	OMIM:309801
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ...	ORPHA:567983
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Recurrent pneu...	ORPHA:731
Mosaic Trisomy 9	Corneal opacity	ORPHA:99776
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Chronic diarrhea, Feeding difficulties, Dysphagia	OMIM:620358
De Barsy Syndrome	Cataract, Corneal opacity	ORPHA:2962
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Fucosidosis	Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly	OMIM:230000
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea...	ORPHA:99921
Oeis Complex	Omphalocele, Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal...	OMIM:258040
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Apnea, Chronic rhinitis	ORPHA:667
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Corneal opacity, Eczema, Astigmatism, Aortic valve stenosis	ORPHA:464306
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla...	ORPHA:785
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Right-to-left shunt, Pulmonary arterial hypertension, Pleural effu...	OMIM:265380
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Congenital d...	OMIM:618280
Meckel Syndrome 12	Hypoplasia of the uterus, Arthrogryposis multiplex congenita, Vaginal atresia	OMIM:616258
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Failure to thrive, Reye syndrome-like episodes, Abdominal distention, Oste...	OMIM:256810
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Cataract, Opacification of the corneal stroma	OMIM:214110
Fryns Syndrome	Corneal opacity	ORPHA:2059
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult...	ORPHA:565
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Pneumothorax, Respiratory insufficiency, Pulmonary arterial hypertension...	OMIM:612289
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Corneal opacity	ORPHA:79396
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia	ORPHA:3320
Joubert Syndrome 5	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:610188
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Primary Progressive Freezing Gait	Hypertension	ORPHA:75567
Mohr-Tranebjaerg Syndrome	Aspiration pneumonia	ORPHA:52368
Adams-Oliver Syndrome 1	Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:100300
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea	OMIM:614230
9Q33.3Q34.11 Microdeletion Syndrome	Epistaxis, Telangiectasia, Constipation, Esophagitis, Dysphagia	ORPHA:495818
Melnick-Needles Syndrome	Pulmonary arterial hypertension	OMIM:309350
Arterial Tortuosity Syndrome	Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the...	OMIM:208050
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Bartter Syndrome, Type 1, Antenatal	Increased circulating renin level, Low-to-normal blood pressure	OMIM:601678
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary arterial hypertension, Neonatal respiratory distress	OMIM:620025
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Nijmegen Breakage Syndrome	Anal stenosis, Sinusitis, Diarrhea, Recurrent pneumonia, Bronchiectasis, Cleft palate, Recurrent ...	OMIM:251260
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:614052
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity	ORPHA:464311
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Pulmonary arterial hypertension, Respiratory failure, Hypertrophic cardiomyopathy, Restrictive ve...	ORPHA:96334
Gm1 Gangliosidosis Type 1	Decreased beta-galactosidase activity, Hirsutism, Aspiration pneumonia	ORPHA:79255
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Diarrhea	OMIM:619313
Osteopetrosis With Renal Tubular Acidosis	Pulmonary arterial hypertension	ORPHA:2785
Parkes Weber Syndrome	Bounding pulse, High-output congestive heart failure, Abnormal B-type natriuretic peptide concent...	ORPHA:90307
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Pulmonary arterial hypertension	OMIM:620186
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia	OMIM:614437
Orofaciodigital Syndrome Type 2	Tachypnea, Apnea, Thick hair	ORPHA:2751
Arima Syndrome	Dyspnea, Tachypnea	OMIM:243910
Spondylodysplastic Ehlers-Danlos Syndrome	Corneal opacity, Posterior subcapsular cataract, Aortic valve stenosis, Pulmonic stenosis, Megalo...	ORPHA:536471
Igg4-Related Retroperitoneal Fibrosis	Renovascular hypertension, Large vessel vasculitis, Hypertension, Budd-Chiari syndrome, Hashimoto...	ORPHA:49041
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Abdominal pain, Chylopericardium, Chylothorax, Ascites	ORPHA:538
Ctcf-Related Neurodevelopmental Disorder	Pulmonary arterial hypertension, Mitral regurgitation, Chronic lung disease, Pulmonary hemorrhage	ORPHA:363611
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m...	ORPHA:2020
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ...	ORPHA:1359
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Hardikar Syndrome	Failure to thrive, Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease...	OMIM:301068
Aymé-Gripp Syndrome	Pericardial effusion, Pericarditis	ORPHA:1272
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Hypertension	OMIM:301050
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy	ORPHA:495875
Gaucher Disease	Pulmonary arterial hypertension, Respiratory insufficiency	ORPHA:355
Fanconi Anemia, Complementation Group L	Aplasia of the uterus, Micropenis, Bone marrow hypocellularity, Anemia	OMIM:614083
Renal Hypoplasia, Bilateral	Hypertension	ORPHA:97362
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen...	ORPHA:284339
Bartter Syndrome, Type 2, Antenatal	Increased circulating renin level, Low-to-normal blood pressure	OMIM:241200
Familial Bicuspid Aortic Valve	Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur	ORPHA:402075
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Bradycardia	ORPHA:226307
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension	ORPHA:2072
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea	OMIM:229600
Cockayne Syndrome Type 1	Male hypogonadism, Hypertension	ORPHA:90321
Tetrasomy 9P	Pericarditis, Myositis, Dextrocardia, Raynaud phenomenon, Jaundice, Arthritis, Abnormal cardiac s...	ORPHA:3310
Meckel Syndrome 14	Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus	OMIM:619879
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Spontaneous pneumothorax, Hypertension, Pulmonary arterial hypertension,...	OMIM:606721
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
3-Methylglutaconic Aciduria, Type Viii	Bradycardia	OMIM:617248
Immunodeficiency 55	Diarrhea, Recurrent skin infections, Eczema	OMIM:617827
Lissencephaly Due To Lis1 Mutation	Polyhydramnios, Aspiration pneumonia	ORPHA:95232
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension	OMIM:616914
Tangier Disease	Corneal opacity	ORPHA:31150
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Dopamine Beta-Hydroxylase Deficiency	Diarrhea, Rhinitis, Vomiting	ORPHA:230
Carpenter Syndrome 1	Microcornea, Pulmonic stenosis, Opacification of the corneal stroma	OMIM:201000
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Perianal abscess, Hyperlipidemia, R...	ORPHA:444490
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Cataract, Corneal opacity	ORPHA:1052
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Mucopolysaccharidosis, Type Iiid	Diarrhea, Dysphagia, Macroglossia, Tube feeding, Recurrent otitis media	OMIM:252940
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:99889
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Hypertension, Renovascular hypertension, Cardiomyopathy	ORPHA:3472
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive in infancy, Poor appetite, Diar...	ORPHA:247598
Trichohepatoneurodevelopmental Syndrome	Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, High palate, Decre...	OMIM:618268
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Recurrent aspiration pneumonia	ORPHA:73230
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Abnormal pupil morphology, Cheilitis, Buphthalmos, Arthritis, Lentiglo...	ORPHA:534
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p...	ORPHA:158668
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Trichothiodystrophy 5, Nonphotosensitive	Chronic diarrhea	OMIM:300953
Renal Hypoplasia	Hypertension	ORPHA:93101
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Bardet-Biedl Syndrome 1	Nephrogenic diabetes insipidus, Hypertension, Diabetes mellitus, Hypogonadism	OMIM:209900
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension	ORPHA:95494
Von Hippel-Lindau Syndrome	Hypertension, Pheochromocytoma, Paraganglioma	OMIM:193300
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati...	OMIM:609441
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Mucopolysaccharidosis, Type Iva	Recurrent pneumonia, Opacification of the corneal stroma	OMIM:253000
Oculoectodermal Syndrome	Transient ischemic attack, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal ...	OMIM:600268
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Keratitis, Telangiectasia, Opa...	ORPHA:910
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Pyloric stenosis, Submucous cleft hard palate, High palate, Chronic diarrhea	ORPHA:457279
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval	OMIM:614947
Distal Renal Tubular Acidosis	Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive	ORPHA:18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Achalasia, Esophagitis, Feeding difficulties	OMIM:615356
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Portal hypertension, Congestive ...	ORPHA:64
Apert Syndrome	Hypertension	ORPHA:87
Glycogen Storage Disease Ia	Hypertension, Delayed puberty	OMIM:232200
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagi...	OMIM:236680
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Congenital Disorder Of Deglycosylation 1	Corneal ulceration, Corneal opacity	OMIM:615273
Nephronophthisis-Like Nephropathy 1	Hypertension	OMIM:613159
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus	ORPHA:457284
Cornelia De Lange Syndrome 1	Pneumonia, Highly arched eyebrow, Curly eyelashes, Synophrys, Low posterior hairline, Long eyelas...	OMIM:122470
Coffin-Siris Syndrome	Sparse scalp hair, Thick eyebrow, Hypoplastic fifth fingernail, Recurrent upper respiratory tract...	ORPHA:1465
Autosomal Dominant Polycystic Kidney Disease	Hypertension, Pituitary growth hormone cell adenoma	ORPHA:730
Galloway-Mowat Syndrome 3	Hypertension	OMIM:617729
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension	OMIM:235400
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity	ORPHA:920
Ayme-Gripp Syndrome	Pericarditis	OMIM:601088
Rothmund-Thomson Syndrome	Skin rash, Small for gestational age, Nasogastric tube feeding in infancy, Diarrhea, Vomiting, Ma...	ORPHA:2909
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Seborrheic dermatitis	OMIM:274000
Xfe Progeroid Syndrome	Hypertension	OMIM:610965
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity, Heart murmur, Cardiomyopathy, Hypertension, Arthritis, Arrhythmia	ORPHA:217085
Rothmund-Thomson Syndrome Type 2	Small for gestational age, Diarrhea, Functional abnormality of the gastrointestinal tract, Cleft ...	ORPHA:221016
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati...	ORPHA:314769
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Papillorenal Syndrome	Hypertension	OMIM:120330
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity, Heart murmur, Cardiomyopathy, Hypertension, Arthritis, Arrhythmia	ORPHA:217093
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension	OMIM:123790
Cerebrotendinous Xanthomatosis	Pseudobulbar paralysis, Diarrhea	OMIM:213700
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Renovascular hypertension, Hypertension, Pulmonic stenosis, Pulmonary...	ORPHA:97685
Omphalocele Syndrome, Shprintzen-Goldberg Type	Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia	ORPHA:3164
Rothmund-Thomson Syndrome Type 1	Small for gestational age, Diarrhea, Functional abnormality of the gastrointestinal tract, Vomiti...	ORPHA:221008
Generalized Arterial Calcification Of Infancy	Respiratory distress, Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Le...	ORPHA:51608
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati...	ORPHA:963
Proboscis Lateralis	Cataract, Corneal opacity, Nasolacrimal duct obstruction, Microcornea, Iris coloboma	ORPHA:141099
Lathosterolosis	Microcornea, Cataract, Opacification of the corneal stroma	ORPHA:46059
Deeah Syndrome	Malabsorption, Chronic diarrhea, Narrow palate, Chronic constipation, High palate, Dysphagia, Dec...	OMIM:619004
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Seborrheic dermatitis, Splenomegaly, Truncal obesity, Aspiration pneumonia, Ascites, Thrombocytop...	OMIM:301072
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Pustule, Keratoconjunctivitis, Opacification of the corneal s...	ORPHA:2907
Posterior Urethral Valve	Hypertension	ORPHA:93110
Multiple Endocrine Neoplasia Type 4	Peptic ulcer, Diarrhea, Episodic abdominal pain, Zollinger-Ellison syndrome, Esophagitis	ORPHA:276152
Chikungunya	Maculopapular exanthema, Skin rash, Erythema nodosum, Diarrhea, Crusting erythematous dermatitis,...	ORPHA:324625
Cog1-Cdg	Pulmonary arterial hypertension	ORPHA:263508
Mucopolysaccharidosis Type 2	Corneal opacity, Cardiomyopathy, Hypertension, Hip osteoarthritis, Arrhythmia	ORPHA:580
Larsen Syndrome	Corneal opacity	OMIM:150250
Renal Agenesis	Hypertension	ORPHA:411709
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Anterior chamber flare, Intermed...	ORPHA:91500
Tay-Sachs Disease	Abnormal circulating enzyme concentration or activity, Aspiration pneumonia	ORPHA:845
Myhre Syndrome	Precocious puberty, Hypertension, Hypogonadism	ORPHA:2588
Proximal Renal Tubular Acidosis	Diarrhea, Failure to thrive, Vomiting, Malabsorption	ORPHA:47159
Chime Syndrome	Corneal opacity	ORPHA:3474
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert...	OMIM:619534
Oligomeganephronia	Hypertension	ORPHA:2260
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Chronic diarrhea, Recurrent infection of the gastrointestinal tract	OMIM:612132
Bartter Syndrome Type 4	Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren...	ORPHA:89938
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Chronic constipation, Chronic diarrhea, High palate, Decreased body weight	OMIM:619005
Limb-Mammary Syndrome	Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u...	ORPHA:69085
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Cataract, Brushfield spots, Heart murmur, Mitral r...	OMIM:614866
Alg9-Cdg	Villous atrophy, Diarrhea, Gastroesophageal reflux, Vomiting, Bifid uvula	ORPHA:79328
Alport Syndrome 3A, Autosomal Dominant	Hypertension	OMIM:104200
Renal Cysts And Diabetes Syndrome	Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, Bicornuate uterus, Epididymal c...	OMIM:137920
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Cataract, Opacification of the corneal stroma	OMIM:214100
Viss Syndrome	Epidural hemorrhage, Dyspnea, Asthma, Pneumothorax, Pulmonary arterial hypertension, Emphysema	OMIM:619472
Trichohepatoenteric Syndrome 1	Villous atrophy, Small for gestational age, Hepatic failure, Intractable diarrhea, Failure to thr...	OMIM:222470
Scalp-Ear-Nipple Syndrome	Type I diabetes mellitus, Hypertension	ORPHA:2036
Neurofibromatosis Type 1	Cataract, Corneal opacity, Hypertension, Lisch nodules, Heterochromia iridis	ORPHA:636
Carey-Fineman-Ziter Syndrome	Hypertensive crisis	ORPHA:1358
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Dubowitz Syndrome	Eczema, Feeding difficulties in infancy, Velopharyngeal insufficiency, Submucous cleft hard palat...	OMIM:223370
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Recurrent urinary tract infections, Aspiration pneumonia	ORPHA:99027
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cardiac conducti...	ORPHA:353281
Occipital Horn Syndrome	Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis, Gastroesophageal reflux, Esophagiti...	ORPHA:198
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Senior-Boichis Syndrome	Hypertension, Portal hypertension	ORPHA:84081
48,Xxxy Syndrome	Asthma, Pulmonary embolism	ORPHA:96263
Dubowitz Syndrome	Anal stenosis, Eczema, Malabsorption, Rectal prolapse, Submucous cleft hard palate, Chronic diarr...	ORPHA:235
Nijmegen Breakage Syndrome	Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Recurrent pneumonia, Cleft palate, ...	ORPHA:647
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Anemia, Recurrent Staphylococcus aureus infections, Syncope, S...	ORPHA:642
Exstrophy-Epispadias Complex	Bifid scrotum, Omphalocele, Inguinal hernia, Bifid uterus, Cryptorchidism, Epispadias, Cystocele,...	ORPHA:322
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Wilson Disease	Kayser-Fleischer ring, Osteoarthritis, Atypical or prolonged hepatitis	OMIM:277900
Alkaptonuria	Hypertension, Myocardial infarction	ORPHA:56
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Pulmonary arterial hypertension	OMIM:613355
Microphthalmia, Syndromic 3	Cataract, Sclerocornea	OMIM:206900
49,Xxxxy Syndrome	Asthma, Pulmonary embolism	ORPHA:96264
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Cataract, Opacification of the corneal stroma	OMIM:251300
Diamond-Blackfan Anemia 21	Chronic diarrhea, Obesity	OMIM:620072
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Hypertension, Pheochromoc...	ORPHA:805
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Increased circulating gonadotropin level	OMIM:110100
Alport Syndrome	Hypertension	ORPHA:63
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Mitral regurgitation	OMIM:611962
Au-Kline Syndrome	Hypertension	OMIM:616580
Wolf-Hirschhorn Syndrome	Chronic otitis media, Megalocornea, Iris coloboma, Sclerocornea	ORPHA:280
Meckel Syndrome	Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea	ORPHA:564
Cockayne Syndrome A	Hypertension, Arrhythmia, Thymic hormone decreased, Hypogonadism	OMIM:216400
Mowat-Wilson Syndrome	Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten...	ORPHA:2152
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Uveitis, Vitreous hemorrhage, Hypo...	ORPHA:790
Peters Plus Syndrome	Cataract, Corneal opacity, Microcornea, Pulmonic stenosis, Peters anomaly, Iris coloboma, Anterio...	ORPHA:709
Mosaic Trisomy 1	Opacification of the corneal stroma	ORPHA:1692
Semilobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:93924
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ...	ORPHA:3464
Osteogenesis Imperfecta	Aortic regurgitation, Osteoarthritis, Corneal opacity, Cerebral hemorrhage	ORPHA:666
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Bil...	OMIM:194190
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Chronic diarrhea, Episodic vomiting, Obesity, Feeding difficulties, Truncal ...	OMIM:615873
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Okamoto Syndrome	Omphalocele, Splenomegaly, Bifid uterus	ORPHA:2729
Denys-Drash Syndrome	Hypertension	OMIM:194080
Cockayne Syndrome	Diabetes mellitus, Retinal hemorrhage, Absence of pubertal development, Hypertension, Delayed pub...	ORPHA:191
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Hepatoblastoma, Hypertrop...	ORPHA:116
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hypertension	OMIM:266920
Niemann-Pick Disease Type C	Low cholesterol esterification rate, Jaundice, Abnormal lung morphology, Respiratory insufficienc...	ORPHA:646
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea	OMIM:619869
Acute Transverse Myelitis	Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage	ORPHA:139417
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Polyhydramnios, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Polyhydramnios, ...	ORPHA:353277
Cockayne Syndrome B	Hypertension, Arrhythmia	OMIM:133540
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Orofaciodigital Syndrome I	Hypertension	OMIM:311200
Neurofibromatosis, Type I	Parathyroid adenoma, Hypertension, Pheochromocytoma	OMIM:162200
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypertension	OMIM:617913
Smith-Lemli-Opitz Syndrome	Cataract, Iris coloboma, Sclerocornea	ORPHA:818
Zttk Syndrome	Feeding difficulties in infancy, Submucous cleft hard palate, Chronic diarrhea, Feeding difficult...	OMIM:617140
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Small for gestational age, Feeding difficulties in infancy, Nasogast...	ORPHA:508488
Smith-Lemli-Opitz Syndrome	Precocious puberty, Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation	OMIM:270400
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary...	OMIM:263650
Orofaciodigital Syndrome Type 1	Hypertension	ORPHA:2750
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Small for gestational age, Pneumonia, Hypoplasia of the thymus,...	OMIM:264090
Myhre Syndrome	Hypertension, Aortic valve stenosis	OMIM:139210
Fraser Syndrome 1	Corneal opacity	OMIM:219000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Small for gestational age, Intestinal malrotation, Feeding difficulties, Intermittent diarrhea, F...	ORPHA:2255
Ataxia-Telangiectasia	Chronic diarrhea, Failure to thrive, Sinusitis, Bronchiectasis	OMIM:208900
Cranioectodermal Dysplasia 2	Hypertension	OMIM:613610
Pearson Syndrome	Small for gestational age, Exocrine pancreatic insufficiency, Chronic diarrhea, Dysphagia, Steato...	ORPHA:699
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Heart murmur, Aspiration pneumonia, Cardiomyopathy	OMIM:216340
Wiedemann-Rautenstrauch Syndrome	Cataract, Recurrent skin infections, Corneal opacity, Synovitis, Pulmonic stenosis, Recurrent oti...	ORPHA:3455
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt...	OMIM:107480
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric...	ORPHA:391665
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Decreased serum iron, Pulmonary embolism, Dyspnea, Hypertension, Budd-Chia...	ORPHA:447
Lathosterolosis	Cataract, Opacification of the corneal stroma	OMIM:607330
Systemic Lupus Erythematosus	Raynaud phenomenon, Hypertension	ORPHA:536
Pierson Syndrome	Hypertension, Retinal hemorrhage	OMIM:609049
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Angina pectoris, Pericardial effusion, Reduced thyro...	ORPHA:79318
Digeorge Syndrome	Acne, Sclerocornea, Seborrheic dermatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent ot...	OMIM:188400
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol...	ORPHA:572333
Neu-Laxova Syndrome 1	Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly skin, Camptodacty...	OMIM:256520
Sturge-Weber Syndrome	Conjunctival telangiectasia, Pulmonary embolism	ORPHA:3205
Coffin-Siris Syndrome 1	Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia of the ute...	OMIM:135900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma	OMIM:253280
Williams-Beuren Syndrome	Diabetes mellitus, Portal hypertension, Early onset of sexual maturation, Hypertension, Mitral re...	OMIM:194050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Breathing dysregulation, Abnormality of the endocrine system, Precocious ...	ORPHA:438213
Occipital Horn Syndrome	Chronic diarrhea, High palate, Hiatus hernia	OMIM:304150
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypertension	OMIM:210710
Loeys-Dietz Syndrome	Atypical scarring of skin, Camptodactyly of finger, Uterine rupture	ORPHA:60030
Renal Dysplasia	Hypertension	ORPHA:93108
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Elbow flexion contracture, Anteriorly displaced genit...	OMIM:276820
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnorm...	OMIM:261540
Kabuki Syndrome 1	Hemolytic anemia, Premature thelarche, Autoimmune thrombocytopenia, Congenital hypothyroidism, Re...	OMIM:147920
Multiple Osteochondromas	Arthritis, Pneumothorax, Hemothorax	ORPHA:321
Lafora Disease	Hepatic failure, Recurrent aspiration pneumonia	ORPHA:501
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Opacification of the corneal stroma	OMIM:268300
Doors Syndrome	Respiratory distress, Abnormal fingernail morphology, Low anterior hairline, Absent fingernail, A...	ORPHA:79500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroparesis, Failure to thrive in infancy, Feeding difficulties in infancy, Gastrointestinal dy...	ORPHA:500150
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Congenital Disorder Of Glycosylation, Type Iim	Hypertension	OMIM:300896
Fryns Syndrome	Opacification of the corneal stroma	OMIM:229850
Nmda Receptor Encephalitis	Diarrhea, Vomiting	ORPHA:217253
Cerebrotendinous Xanthomatosis	Chronic diarrhea	ORPHA:909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Small scrotum, Hypospadias, Supernumerary nipple, Congenital diaphr...	OMIM:601803
Microphthalmia, Syndromic 6	Microcornea, Sclerocornea	OMIM:607932
Aspartylglucosaminuria	Macroglossia, Diarrhea, Acne	OMIM:208400
Vascular Ehlers-Danlos Syndrome	Inguinal hernia, Hypospadias, Cryptorchidism, Cystocele, Cigarette-paper scars, Uterine rupture, ...	ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ace2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ace2.

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

Title	Journal	IMPC Allele	PubMed ID
ACE2 mouse models: a toolbox for cardiovascular and pulmonary research.	Nature communications (October 2020)	Ace2^{tm1c(KOMP)Wtsi} Ace2^{tm1a(KOMP)Wtsi}	PMC7560817
A Dynamic Variation of Pulmonary ACE2 Is Required to Modulate Neutrophilic Inflammation in Response to Pseudomonas aeruginosa Lung Infection in Mice.	Journal of immunology (Baltimore, Md. : 1950) (October 2019)	Ace2^{tm1a(KOMP)Wtsi}	31645418
ACE2 and ADAM17 Interaction Regulates the Activity of Presympathetic Neurons.	Hypertension (Dallas, Tex. : 1979) (September 2019)	Ace2^{tm1a(KOMP)Wtsi}	31564162
Adipocyte deficiency of ACE2 increases systolic blood pressures of obese female C57BL/6 mice.	Biology of sex differences (September 2019)	Ace2^{tm1a(KOMP)Wtsi}	PMC6727421

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

MGI Allele	Allele Type	Produced
Ace2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ace2^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Ace2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ace2 MGI:1917258

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Ace2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data