Gene: Acvrl1 MGI:1338946

Registered for phenotyping at IMPC

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

Gene Summary

Name:

activin A receptor, type II-like 1

Synonyms:

Alk-1, Alk1, activin receptor-like kinase-1, Acvrlk1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Acvrl1 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 Acvrl1 (2 diseases)
Human diseases predicted to be associated with Acvrl1 (1343 diseases)

The table below shows human diseases associated to Acvrl1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Telangiectasia, Hereditary Hemorrhagic, Type 2		Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Facial telangiectasia, G...	OMIM:600376
Hereditary Hemorrhagic Telangiectasia		Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Esophageal varix,...	ORPHA:774

The table below shows human diseases predicted to be associated to Acvrl1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal large intestine morphology, Poor s...	ORPHA:2198
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl...	ORPHA:79301
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ...	ORPHA:2924
Telangiectasia, Hereditary Hemorrhagic, Type 5	Telangiectasia, Elevated circulating hepatic transaminase concentration, Portal hypertension, Spo...	OMIM:615506
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Familial Hypofibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:98881
Non-Involuting Congenital Hemangioma	Subcutaneous calcification, Congestive heart failure, Telangiectasia of the skin, Prominent super...	ORPHA:141179
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Porokeratosis 2, Palmar, Plantar, And Disseminated Type	Palmar telangiectasia, Plantar telangiectasia	OMIM:175850
Glanzmann Thrombasthenia	Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi...	ORPHA:849
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Moyamoya Disease 1	Telangiectasia, Inflammatory arteriopathy	OMIM:252350
Rapidly Involuting Congenital Hemangioma	Subcutaneous calcification, Congestive heart failure, Telangiectasia of the skin, Prominent super...	ORPHA:141184
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Familial Cylindromatosis	Telangiectasia of the skin	ORPHA:211
Nephrosialidosis	Pericardial effusion, Bone-marrow foam cells, Ascites	OMIM:256150
Congenital Factor V Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo...	ORPHA:326
Mastocytosis, Cutaneous	Erythema, Telangiectasia macularis eruptiva perstans, Urticaria	OMIM:154800
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ac...	ORPHA:131
Uv-Sensitive Syndrome 3	Telangiectasia, Cutaneous photosensitivity	OMIM:614640
Capillary Malformation-Arteriovenous Malformation 2	Telangiectasia	OMIM:618196
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100082
Cutaneous Collagenous Vasculopathy	Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ...	ORPHA:280779
Neuroendocrine Tumor Of The Colon	Hypotension, Elevated circulating hepatic transaminase concentration, Right ventricular failure, ...	ORPHA:100080
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction	OMIM:137560
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Familial Multiple Trichoepithelioma	Telangiectasia of the skin	ORPHA:867
Cerebral Cavernous Malformations 2	Telangiectasia, Cerebral hemorrhage	OMIM:603284
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of...	ORPHA:3002
Obesity Due To Sim1 Deficiency	Hypotension, Hyperinsulinemia, Postural hypotension with compensatory tachycardia, Abnormal auton...	ORPHA:369873
Bernard-Soulier Syndrome	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ...	OMIM:231200
Ethanolaminosis	Cardiomegaly	OMIM:227150
Dengue Fever	Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Diarrhea, Bruising suscep...	ORPHA:99828
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Nausea and vomi...	ORPHA:543
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Gastrointestinal hemorrhage, Premature graying of hair, Portal hypertension, Es...	OMIM:617341
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Moyamoya Disease	Telangiectasia	ORPHA:2573
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Telangiectasia, Hereditary Benign	Diffuse telangiectasia	OMIM:187260
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem...	ORPHA:98878
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular...	ORPHA:229
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage	OMIM:106070
Uv-Sensitive Syndrome 1	Telangiectasia, Cutaneous photosensitivity	OMIM:600630
Diffuse Cutaneous Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Dermatographic urticaria, Diarrhea, Vomiting, Generaliz...	ORPHA:79456
Congenital Heart Block	Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, P...	ORPHA:60041
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Diabetes mellitus, Myocardial infarction	OMIM:608320
Intracranial Hypertension, Idiopathic	Papilledema, Hypertension	OMIM:243200
Rombo Syndrome	Facial telangiectasia	OMIM:180730
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Abn...	ORPHA:90308
Bleeding Disorder, Platelet-Type, 22	Subcutaneous hemorrhage, Bleeding with minor or no trauma, Gastrointestinal hemorrhage, Excessive...	OMIM:618462
Capillary Malformation-Arteriovenous Malformation 1	Arteriovenous malformation, Arteriovenous fistula	OMIM:608354
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Erythema, Diarrhea, Recurrent aphthous stomatitis, Intes...	ORPHA:343
Cutaneous Mastocytoma	Erythema, Hypotension, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, Diar...	ORPHA:79455
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure...	OMIM:235200
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Prothrombin Deficiency, Congenital	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P...	OMIM:613679
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus	OMIM:166990
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Neuroendocrine Tumor Of Stomach	Protracted diarrhea, Nausea and vomiting, Anorexia, Hepatomegaly, Right ventricular failure, Tric...	ORPHA:100075
Arterial Dissection-Lentiginosis Syndrome	Arterial dissection, Arteriovenous malformation	ORPHA:1682
Mpi-Cdg	Hepatic fibrosis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Protein-losing enteropathy, De...	ORPHA:79319
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, ...	ORPHA:91138
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Arrhythmia, Abdominal pain, Const...	ORPHA:99745
Retinal Telangiectasia And Hypogammaglobulinemia	Retinal telangiectasia	OMIM:267900
Carcinoid Syndrome	Elevated circulating hepatic transaminase concentration, Right ventricular failure, Lack of bowel...	ORPHA:100093
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Bruising suscepti...	OMIM:273800
Vein Of Galen Aneurysmal Malformation	Vascular dilatation, Abnormal cerebral vascular morphology, Peripheral arteriovenous fistula	ORPHA:1053
Distal Duplication 14Q	Short stature, Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Transaldolase Deficiency	Telangiectasia, Hepatosplenomegaly, Cirrhosis, Premature skin wrinkling	ORPHA:101028
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Arteriovenous malformation, Intrauterine growth retardation, Mic...	ORPHA:1110
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e...	OMIM:614702
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub...	ORPHA:853
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1	Retinal telangiectasia	OMIM:619382
Congenital Factor Xi Deficiency	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac...	ORPHA:329
Preeclampsia/Eclampsia 1	Elevated circulating hepatic transaminase concentration, Hypertension	OMIM:189800
Cerebral Arteriovenous Malformation	Abnormal cerebral vascular morphology, Peripheral arteriovenous fistula	ORPHA:46724
Limited Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Nausea and vomiting, Telangiectasia of the skin, Pulmonary arterial hype...	ORPHA:220402
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Micronodula...	OMIM:192315
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Cutis marmorata, Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Hypertrophic cardiomyopathy	ORPHA:79279
Cantu Syndrome	Congenital hypertrophy of left ventricle, Umbilical hernia, Lymphedema, Cardiomegaly, Bicuspid ao...	OMIM:239850
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot...	OMIM:615779
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Arteriovenous malformation, Congestive heart failure, Abnormal heart morphology, Cereb...	ORPHA:137667
Left Ventricular Noncompaction 1	Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop...	OMIM:604169
Parkes Weber Syndrome	Arteriovenous malformation, Myelopathy, Vascular tortuosity, Lower limb muscle weakness, Venous m...	ORPHA:90307
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Generalized abnormality of skin, Ascites, Abnormal gastric m...	ORPHA:779
Pulmonary Arteriovenous Malformation	Epistaxis, Abnormal bleeding, Gastrointestinal infarctions, Pulmonary hemorrhage, Palpitations, H...	ORPHA:2038
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension	OMIM:617027
Hydroa Vacciniforme	Erythema, Telangiectasia of the skin, Cutaneous photosensitivity, Hydroa vacciniforme	ORPHA:330058
Blue Rubber Bleb Nevus	Microcytic anemia, Intestinal bleeding, Arteriovenous malformation	ORPHA:1059
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Feeding difficulties	OMIM:620368
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Telangiectasia of the skin, Cutaneous photosensitivity, Retinal telangiectasia	ORPHA:438134
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Ventriculomegaly, Abnormal neuron morphology	ORPHA:329228
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Tricuspid regurgitation, Portal ...	OMIM:619433
Wyburn-Mason Syndrome	Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, Subarachnoid hemorr...	ORPHA:53719
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Facial telangiectasia, G...	OMIM:600376
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear...	ORPHA:3400
Pure Autonomic Failure	Syncope, Abnormality of circulating catecholamine level, Orthostatic hypotension, Abnormal autono...	ORPHA:441
Familial Multiple Nevi Flammei	Pulmonary embolism, Arteriovenous malformation, Venous insufficiency, Arrhythmia, Intracranial he...	ORPHA:624
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice	OMIM:618881
Coronary Artery Disease, Autosomal Dominant 2	Hypertension, Sudden cardiac death, Type II diabetes mellitus, Myocardial infarction	OMIM:610947
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric...	OMIM:618773
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Spider hema...	ORPHA:2137
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death	OMIM:601612
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage	ORPHA:1980
Aortic Aneurysm, Familial Thoracic 4	Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi...	OMIM:132900
Von Willebrand Disease, Type 1	Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged...	OMIM:193400
Malignant Atrophic Papulosis	Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage	OMIM:602248
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epistaxis, Gastrointestinal hemorrhage, Poor wound healing, Post-partum hemorrhage, Prolonged ble...	ORPHA:465
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Poor wound healing, Subdural hemorrhage...	ORPHA:169802
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Esophageal varix,...	ORPHA:774
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Portal Hypertension, Noncirrhotic, 1	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat...	OMIM:617068
Hemophilia B	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a...	OMIM:306900
Caribbean Parkinsonism	Autonomic bladder dysfunction, Ventriculomegaly, Orthostatic hypotension, Abnormal autonomic nerv...	ORPHA:97355
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Abnormal cerebral vascular morphology, Abnormal heart ...	ORPHA:363705
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure, Arteriovenous malformation, Venous insufficiency	ORPHA:137608
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin...	OMIM:187300
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Leukopenia, Abnorma...	ORPHA:974
Spinal Arteriovenous Metameric Syndrome	Spinal arteriovenous malformation, Arteriovenous malformation, Congestive heart failure	ORPHA:53721
Congenital Pulmonary Lymphangiectasia	Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Growth delay, Chyloperica...	ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites...	OMIM:115197
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Ganglioneuroma	Gastrointestinal hemorrhage, Abnormal rectum morphology, Episodic abdominal pain, Hamartomatous p...	ORPHA:251992
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c...	OMIM:619463
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem...	ORPHA:169805
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa...	OMIM:612158
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart	OMIM:241550
Coproporphyria, Hereditary	Diarrhea, Vomiting, Splenomegaly, Cutaneous photosensitivity, Abdominal pain, Constipation, Hepat...	OMIM:121300
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Gastrointestinal carcinoma, Pancre...	ORPHA:2869
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas	Arteriovenous fistula	OMIM:600419
Ménétrier Disease	Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Stomach c...	ORPHA:2494
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Splenomegaly, Cerebral hemo...	OMIM:263300
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Right ventricular failure, Diarrhea, Abd...	ORPHA:100085
Polycythemia Vera	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Early satiety, Pulmonary embolism, Bru...	ORPHA:729
Bronchial Neuroendocrine Tumor	Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Protracted diarrhea, ...	ORPHA:97287
Hydrops Fetalis	Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni...	ORPHA:1041
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Nausea and vomiting...	ORPHA:44890
Bernard-Soulier Syndrome	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont...	ORPHA:274
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in...	ORPHA:85446
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Hepatic amyloidosis, Chronic constipation, Hepatomegaly, A...	OMIM:142680
Systemic Primary Carnitine Deficiency	Hepatomegaly, Vomiting, Elevated circulating hepatic transaminase concentration	ORPHA:158
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Melena, Generalized abnor...	ORPHA:464321
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Vomiting, Hepatic stea...	OMIM:614480
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Transient ischemic attack, Hypertension	OMIM:616779
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Diarrhea, Decreased liver function, Ascites, Hepatosple...	ORPHA:98850
Riboflavin Transporter Deficiency	Hypogonadism, Abnormal cranial nerve morphology, Facial palsy, Abnormal autonomic nervous system ...	ORPHA:97229
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Splenomeg...	OMIM:606003
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Dural Sinus Malformation	Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Cerebral hemorrhage, Hypoplasia...	ORPHA:97339
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Multiple muscular ventricular septal defects, Polyhydramnios, Aortic aneurysm, Limb hypertonia, A...	OMIM:620070
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval...	ORPHA:555874
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter...	ORPHA:422
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus...	ORPHA:1457
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Cerebral ischemia, Arteriovenous malformation	ORPHA:60040
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial...	OMIM:601493
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Hemophilia A	Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b...	OMIM:306700
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Telangiectases of the cheeks, Livedo	OMIM:615139
Atrial Septal Defect 4	Coarctation of aorta, Atrial septal defect, Patent foramen ovale	OMIM:611363
Morbid Obesity And Spermatogenic Failure	Hypertension, Type II diabetes mellitus, Myocardial infarction, Congestive heart failure	OMIM:615703
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Premature graying of hair, Telangiectasi...	ORPHA:100
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Diarrhea, Hep...	OMIM:613812
Tempi Syndrome	Ascites, Intracranial hemorrhage, Facial erythema, Telangiectasia	ORPHA:284227
Cardiomyopathy, Dilated, 1Gg	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:613642
Phakomatosis Pigmentovascularis	Cerebral cortical atrophy, Cerebral calcification, Arteriovenous malformation	ORPHA:2875
Meckel Syndrome, Type 8	Pericardial effusion, Occipital encephalocele, Encephalocele, Enlarged kidney	OMIM:613885
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges...	OMIM:613313
Congenital Disorder Of Glycosylation, Type Ie	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Telangiectasia	OMIM:608799
Familial Partial Lipodystrophy, Köbberling Type	Hypertension, Hyperinsulinemia, Diabetes mellitus	ORPHA:79084
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Abnormal bleeding, Nausea, Dysphagia,...	ORPHA:319218
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste...	ORPHA:101016
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Erythema, Diarrhea, Congestive heart failure,...	ORPHA:727
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Hypertension, Insulin-resistant diabetes mellitus at puberty, Abnormal circulat...	ORPHA:280356
Propionic Acidemia	Hepatomegaly, Arrhythmia, Constipation, Cardiomyopathy	ORPHA:35
Pelizaeus-Merzbacher Disease	Short stature, Cerebral cortical atrophy, Arteriovenous malformation, Microcephaly	ORPHA:702
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased liver functio...	ORPHA:85450
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Leber Hereditary Optic Neuropathy	Arrhythmia, Retinal telangiectasia, Ventricular preexcitation	ORPHA:104
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus	OMIM:616501
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia	OMIM:605735
Prolidase Deficiency	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Petechiae, Prolonged...	OMIM:170100
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Feeding di...	OMIM:614876
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Telangiectasia, Fragile skin, Cutaneous photosensitivity, Esophageal stricture	ORPHA:158673
Ppoma	Diarrhea, Nausea and vomiting, Intestinal obstruction, Anorexia, Hepatomegaly, Intrahepatic chole...	ORPHA:97278
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom...	OMIM:103900
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble...	OMIM:187900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Gastrointestin...	ORPHA:247691
Galactose Epimerase Deficiency	Nausea and vomiting, Splenomegaly, Hepatomegaly, Jaundice, Feeding difficulties	ORPHA:79238
Waldenström Macroglobulinemia	Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Congestive heart...	ORPHA:33226
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Xeroderma Pigmentosum Variant	Telangiectasia, Cutaneous photosensitivity	ORPHA:90342
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton...	ORPHA:330001
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Telangiectasia of the...	OMIM:615381
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def...	OMIM:620294
Hyperaldosteronism, Familial, Type Ii	Hyperaldosteronism, Hypertension	OMIM:605635
Wolman Disease	Vomiting, Acute hepatic failure, Splenomegaly, Abdominal distention, Hepatomegaly	OMIM:620151
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Gastrointestinal carcinoma, Mitral regurgitation, Juvenile gastrointesti...	OMIM:175050
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Attrv30M Amyloidosis	Atrioventricular block, Abnormal autonomic nervous system physiology, Cardiomyopathy, Arrhythmia	ORPHA:85447
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal angiodysplasia,...	ORPHA:903
Acrogeria	Prematurely aged appearance, Telangiectasia of the skin, Excessive wrinkled skin	ORPHA:2500
Desmoid Tumor	Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Desmoid...	ORPHA:873
Left Ventricular Noncompaction 10	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:615396
Sandhoff Disease	Hepatomegaly, Splenomegaly, Congestive heart failure	ORPHA:796
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly	OMIM:607685
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	ORPHA:228190
Hepatitis, Fulminant Viral, Susceptibility To	Gingival bleeding, Hepatic failure, Elevated circulating hepatic transaminase concentration, Naus...	OMIM:618549
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas...	OMIM:610655
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cardiomegaly, Peri...	OMIM:620135
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Foix-Alajouanine Syndrome	Cervical myelopathy, Myelopathy, Lower limb muscle weakness, Venous malformation, Distal lower li...	ORPHA:79093
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Hypertension, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left...	OMIM:540000
Partington Syndrome	Facial telangiectasia	ORPHA:94083
Pituitary Adenoma 1, Multiple Types	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	OMIM:102200
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi...	ORPHA:679
Immunodeficiency 104	Hepatomegaly, Gastroesophageal reflux, Diarrhea, Splenomegaly	OMIM:608971
Hypocomplementemic Urticarial Vasculitis	Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Splenomegaly, Hepatomegal...	ORPHA:36412
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and...	OMIM:615962
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Splenomegaly, Vasculitis in the skin, Hepatomegaly, Purpura	OMIM:620296
Melorheostosis	Skeletal muscle atrophy, Peripheral arteriovenous fistula	ORPHA:2485
Bannayan-Riley-Ruvalcaba Syndrome	Arteriovenous malformation, Skeletal muscle atrophy, Myopathy, Aortic aneurysm, Macrocephaly, Sho...	ORPHA:109
Cardiac-Urogenital Syndrome	Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypert...	OMIM:618280
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Mucopolysaccharidosis Type 7	Arteriovenous malformation, Splenomegaly, Umbilical hernia	ORPHA:584
Necrobiosis Lipoidica	Erythema, Telangiectasia of the skin, Fragile skin	ORPHA:542592
Al Amyloidosis	Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensatory tachycardia, Brui...	ORPHA:85443
Cutis Marmorata Telangiectatica Congenita	Arterial stenosis, Telangiectasia of the skin, Arteriovenous malformation, Patent ductus arteriosus	ORPHA:1556
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia	ORPHA:230839
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh...	OMIM:602390
Autoimmune Lymphoproliferative Syndrome, Type Iia	Vasculitis, Gastrointestinal hemorrhage, Splenomegaly, Petechiae, Hepatomegaly, Urticaria	OMIM:603909
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi...	OMIM:618654
Scleroderma, Familial Progressive	Telangiectasia, Abnormal abdomen morphology	OMIM:181750
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Ascites, Dilatation of the cerebral artery, Cardio...	ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension	OMIM:620734
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, ...	ORPHA:75234
Lessel-Kubisch Syndrome	Hypogonadism, Hypertension	OMIM:618681
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Neuraminidase Deficiency	Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Ascites, Sp...	OMIM:256550
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly	ORPHA:46532
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Telangiectasia, Facial telangiectasia, Livedo	OMIM:614564
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Glutaric Aciduria Iii	Hyperthyroidism, Hypertension, Reduced peroxisomal glutaryl-CoA oxidase activity, Goiter	OMIM:231690
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste...	OMIM:618775
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Congenital Sialidosis Type 2	Abnormal EKG, Ascites, Hepatosplenomegaly, Petechiae, Telangiectasia, Hepatomegaly	ORPHA:93400
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Multiple System Atrophy	Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf...	ORPHA:102
Galactosemia Iii	Hepatomegaly, Jaundice, Vomiting, Splenomegaly	OMIM:230350
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena	OMIM:619182
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Malabsorption, Neonatal cholestatic live...	OMIM:214900
Currarino Syndrome	Arteriovenous malformation	ORPHA:1552
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Erythema, Cardiomyopathy, Bundle branch block, Angina pe...	ORPHA:93672
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Palpitatio...	OMIM:605373
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Diabetes insipidus, Diabetes mellitus, Abnormal autonomic nervous system physiology	OMIM:598500
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Fabry Disease	Congestive heart failure, Transient ischemic attack, Angina pectoris, Decreased alpha-galactosida...	OMIM:301500
Somatostatinoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Abnormal abdomen morphology, Lac...	ORPHA:97283
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular...	ORPHA:1166
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate...	OMIM:620010
Grfoma	Diarrhea, Nausea and vomiting, Intestinal obstruction, Anorexia, Hepatomegaly, Intrahepatic chole...	ORPHA:97261
Left Ventricular Noncompaction 8	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:615373
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Tachycardia, Hypertension, Abnormal autonomic nervous system physiology	OMIM:613870
Congenital Disorder Of Glycosylation, Type Il	Ascites, Splenomegaly, Atrial septal defect, Hepatomegaly, Hydrops fetalis, Pericardial effusion	OMIM:608776
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Dysphagia, Splenomegaly	ORPHA:77260
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Gastroesophageal reflux, Xerostomia, Congestive heart failure, Malabsorption...	ORPHA:220393
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef...	OMIM:619313
Lig4 Syndrome	Erythema, Malabsorption, Telangiectasia of the skin, Hepatomegaly, Cutaneous photosensitivity	ORPHA:99812
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Periorbital edema, Joint contracture of the hand, Umbilical hernia, Lymphedema, Intestinal lympha...	OMIM:235510
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Splenomegaly, Gastritis, Pulmon...	ORPHA:809
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Intrauterine growth retardation, Ventricular septal defect, Abnormal aortic morphology, Truncus a...	ORPHA:2516
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei...	OMIM:613854
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	OMIM:604381
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Multiple System Atrophy, Parkinsonian Type	Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf...	ORPHA:98933
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A...	ORPHA:1686
Schöpf-Schulz-Passarge Syndrome	Facial telangiectasia, Ectodermal dysplasia	ORPHA:50944
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Polyh...	ORPHA:3405
Ramon Syndrome	Telangiectasia of the skin	ORPHA:3019
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m...	OMIM:252011
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hypertension, Decreased serum leptin, Diabetic ketoacidosis	OMIM:615238
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Neonat...	OMIM:614096
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Vascular Hyalinosis	Hematochezia, Protein-losing enteropathy, Diarrhea, Premature graying of hair, Malabsorption, Sub...	OMIM:277175
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension	ORPHA:1345
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ...	ORPHA:261243
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Ascites, Abdominal pain, Hepatomegaly, J...	ORPHA:890
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Squamous Cell Carcinoma Of The Anal Canal	Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squamous cell carc...	ORPHA:424019
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Fanconi Anemia	Arteriovenous malformation, Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, L...	ORPHA:84
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti...	OMIM:168000
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Poor wound healing, Cardiomyopathy, Mitral regurgitation, Telangiectasia ...	OMIM:212112
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastrointestinal hemorr...	OMIM:276700
Whipple Disease	Hypotension, Gastrointestinal hemorrhage, Diarrhea, Anorexia, Malabsorption, Splenomegaly, Myocar...	ORPHA:3452
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu...	OMIM:618652
Hemoglobin H Disease	Hepatomegaly, Splenomegaly	OMIM:613978
Glucagonoma	Diarrhea, Nausea and vomiting, Intestinal obstruction, Anorexia, Hepatomegaly, Stomatitis, Intrah...	ORPHA:97280
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Gastroesophageal reflux, Right ventricular failure, Abnor...	ORPHA:90291
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Malabsorption, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:172
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Anasarca, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, A...	OMIM:261740
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Elevated circulating aspartate aminotransferase concentration, Hepatic ...	OMIM:619048
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly, Restrictive cardiomyopathy, Sudden cardiac death	OMIM:115210
Familial Cervical Artery Dissection	Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
Methimazole Embryofetopathy	Intrauterine growth retardation, Abnormal aortic morphology, Ventricular septal defect, Coarctati...	ORPHA:1923
Mitchell Syndrome	Abnormal autonomic nervous system physiology	OMIM:618960
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly	OMIM:606445
Primary Intestinal Lymphangiectasia	Generalized edema, Intestinal lymphangiectasia, Ascites, Pleural effusion, Abnormal lymphatic ves...	ORPHA:90362
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Arterial stenosis, Carotid artery calcification, Renal artery stenosis, C...	OMIM:208000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Cutis marmorata, Hypertension	OMIM:219250
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph...	ORPHA:2041
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	OMIM:232700
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio...	ORPHA:91387
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Cyanosis	OMIM:613977
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy...	OMIM:617228
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Bruising susceptibility, Intracranial...	ORPHA:324636
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Abdominal pain	ORPHA:33402
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic...	ORPHA:2248
Potocki-Shaffer Syndrome	Hypertension, Hypothyroidism, Delayed puberty	ORPHA:52022
Angioosteohypotrophic Syndrome	Telangiectasia of the skin, Prominent superficial veins	ORPHA:75508
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo...	OMIM:211600
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Facial telangiectasia, Premature graying of hair	OMIM:620445
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Cold urticaria, Viral hepatitis, Congestive heart failur...	ORPHA:91139
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t...	OMIM:618300
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Vasculitis, Diarrhea	OMIM:601979
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hepatomega...	OMIM:618234
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pulmonary e...	ORPHA:394
Renal Failure, Progressive, With Hypertension	Hypertension	OMIM:161900
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Anonychia With Flexural Pigmentation	Macular telangiectasia	ORPHA:69125
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Vomiting, Cardio...	OMIM:600649
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Int...	ORPHA:404
Familial Hyperaldosteronism Type I	Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis...	ORPHA:403
Multiple System Atrophy, Cerebellar Type	Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf...	ORPHA:227510
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Hypertension, Splenomegaly	OMIM:105200
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:605115
Congenital Enterovirus Infection	Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrops fetalis, Pe...	ORPHA:292
Mulibrey Nanism	Ascites, Intrauterine growth retardation, Cardiomegaly, Hepatomegaly, Pericardial constriction, S...	OMIM:253250
Tetanus	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Bradycardia, Tachyca...	ORPHA:3299
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Splenomegaly	ORPHA:79292
Bonnemann-Meinecke-Reich Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly	ORPHA:1261
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypertension, Adrena...	OMIM:201910
Coach Syndrome 2	Elevated circulating hepatic transaminase concentration, Hypertension, Hydrocephalus	OMIM:619111
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:613780
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse	OMIM:616166
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransf...	OMIM:618805
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Juvenile Polyposis Syndrome	Abnormal onset of bleeding, Diarrhea, Colon cancer, Stomach cancer, Juvenile gastrointestinal pol...	ORPHA:2929
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Excessive wrink...	ORPHA:758
Intellectual Developmental Disorder, Autosomal Dominant 21	Short stature, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect	OMIM:615502
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Abdominal pai...	ORPHA:97286
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Goiter, Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomic nervous sy...	ORPHA:83601
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Adiposis Dolorosa	Diarrhea, Xerostomia, Bruising susceptibility, Telangiectasia of the skin, Constipation	ORPHA:36397
Indolent Systemic Mastocytosis	Abdominal cramps, Generalized abnormality of skin, Splenomegaly, Hepatomegaly, Darier's sign, Flu...	ORPHA:98848
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele...	OMIM:619868
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Myofiber disarray, Polyhydramnios, Patent foramen ovale, Ventricular sept...	OMIM:620519
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:237800
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal aortic valve morphology,...	ORPHA:1120
Glomuvenous Malformation	Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation	ORPHA:83454
Congenital Toxoplasmosis	Hepatomegaly, Intrauterine growth retardation, Cardiomegaly, Ascites	ORPHA:858
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Preeclampsia	Elevated systolic blood pressure, Type I diabetes mellitus, Elevated circulating hepatic transami...	ORPHA:275555
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C...	ORPHA:160148
Methanol Poisoning	Type I diabetes mellitus, Inflammatory arteriopathy, Type II diabetes mellitus, Permanent atrial ...	ORPHA:31825
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Combined Oxidative Phosphorylation Deficiency 20	Left ventricular noncompaction, Hypertrophic cardiomyopathy	OMIM:615917
Immunoglobulin A Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Erythema, Bruising susceptibility, Angioedema, Vascular ...	ORPHA:761
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Hypoplastic left heart, Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:2001
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Cirrhotic Cardiomyopathy	Abnormal bleeding, Congestive heart failure, Ascites, Fourth heart sound, Ventricular arrhythmia,...	ORPHA:57777
Alpha-Heavy Chain Disease	Ascites, Malabsorption, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Abdomina...	ORPHA:100025
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating...	OMIM:231550
Hemochromatosis, Type 4	Cardiomyopathy, Hepatic steatosis, Arrhythmia, Cirrhosis, Hepatomegaly	OMIM:606069
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def...	OMIM:617205
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Splenomegaly, Ventricular septal defect, Hepatomegaly, Coarctation ...	OMIM:620210
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Hypertension, Anterior hypopituitarism	ORPHA:181
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Intrauterine growth ret...	ORPHA:251071
Aortic Aneurysm, Familial Thoracic 6	Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti...	OMIM:611788
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Hypertension, Prominent superficial veins, Hepatom...	OMIM:608600
Pigmented Nodular Adrenocortical Disease, Primary, 1	Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,...	OMIM:610489
Phosphoribosylpyrophosphate Synthetase Superactivity	Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology	ORPHA:168593
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Aicardi-Goutieres Syndrome 9	Lower limb hypertonia, Ascites, Intrauterine growth retardation, Hepatosplenomegaly, Left ventric...	OMIM:619487
Caroli Syndrome	Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He...	ORPHA:480520
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Dubin-Johnson Syndrome	Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abdomina...	ORPHA:234
Lipodystrophy, Familial Partial, Type 4	Hypertension, Insulin-resistant diabetes mellitus	OMIM:613877
Porphyria Variegata	Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio...	ORPHA:79473
Acute Radiation Syndrome	Hypotension, Vomiting, Diarrhea, Abnormal bleeding, Telangiectasia	ORPHA:454831
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly,...	OMIM:601847
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis	ORPHA:231111
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Hennekam Syndrome	Arteriovenous malformation, Delayed eruption of teeth, Camptodactyly of finger, Pachygyria, Mild ...	ORPHA:2136
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, ST segm...	ORPHA:90065
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Solitary Rectal Ulcer Syndrome	Hematochezia, Tenesmus, Stercoral ulcer, Chronic constipation, Rectal prolapse, Episodic abdomina...	ORPHA:209964
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Ascites, Nausea and vomiting, Arrhythmia, Abdominal pain, ...	ORPHA:139411
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism	OMIM:145260
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Dysphagia	ORPHA:50251
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Type I diabetes mellitus, Hypertension	ORPHA:1192
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach cancer, Na...	ORPHA:440437
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Abnormality of the liver, Rectal prolapse, Intussusception	OMIM:112200
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Abnormal bleeding, Hepatosplenomegaly, Petechiae, Splenomegaly, Hepatomegaly	OMIM:612840
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor...	ORPHA:99050
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Cutis marmorata, Telangiectasia, Livedo reticularis, Raynaud phenomenon	OMIM:615934
Aortic Valve Disease 2	Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, A...	OMIM:614823
Superficial Siderosis	Arteriovenous malformation, Lower limb muscle weakness, Abnormal vertebral artery morphology, Sub...	ORPHA:247245
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Decreased liver function	ORPHA:570422
Q Fever	Vasculitis, Abnormal vascular morphology, Abnormal heart valve morphology, Hepatosplenomegaly, Pl...	ORPHA:781
Timothy Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Patent ductus...	OMIM:601005
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula...	ORPHA:231625
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme...	OMIM:263200
Mitochondrial Complex I Deficiency, Nuclear Type 13	Vomiting, Hypertrophic cardiomyopathy, Bradycardia, Hepatomegaly, Cardiac arrest, Feeding difficu...	OMIM:618235
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Prominent veins on trunk, Umbilical hernia, Mitral valve prolapse, Carotid ...	ORPHA:536532
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Raynaud phenomenon	ORPHA:401945
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Alagille Syndrome	Cholestasis, Reduced number of intrahepatic bile ducts, Telangiectasia of the skin, Hepatomegaly,...	ORPHA:52
Lymphoproliferative Syndrome 1	Hepatomegaly, Pericardial effusion, Splenomegaly, Pleural effusion	OMIM:613011
Aortic Valve Disease 3	Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi...	OMIM:618496
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Muscular dystrophy, Dilated cardiomyopathy, Abnormal myocardium morphology	ORPHA:300751
Meacham Syndrome	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar...	OMIM:608978
Ataxia-Telangiectasia-Like Disorder 2	Progeroid facial appearance, Cutaneous telangiectasia, Cutaneous photosensitivity, Conjunctival t...	OMIM:615919
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular se...	ORPHA:392
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Developmental Delay, Language Impairment, And Ocular Abnormalities	Facial telangiectasia, Pulmonic stenosis	OMIM:620141
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Abnormal heart morphology...	ORPHA:980
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypotension, Hypertension	OMIM:611489
Antisynthetase Syndrome	Aortic regurgitation, Xerostomia, Pulmonary arterial hypertension, Telangiectasia of the skin, My...	ORPHA:81
Alpha-Thalassemia	Generalized edema, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Pericardial effusion, Hydr...	ORPHA:846
Stevens-Johnson Syndrome	Erythema, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, D...	ORPHA:36426
Lipodystrophy, Familial Partial, Type 3	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabet...	OMIM:604367
Liddle Syndrome	Arrhythmia, Cerebral ischemia, Hypertension	ORPHA:526
Familial Hyperaldosteronism Type Iii	Epistaxis, Adrenal hyperplasia, Abnormal circulating renin, Prolonged QT interval, Intracranial h...	ORPHA:251274
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Cranial nerve compre...	ORPHA:94080
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Angiokeratoma corpor...	ORPHA:79280
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Mulibrey Nanism	Hepatomegaly

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