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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:

Alk1, Alk-1, 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 (1317 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hereditary Hemorrhagic Telangiectasia		Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cholecystitis, Intestina...	ORPHA:774
Telangiectasia, Hereditary Hemorrhagic, Type 2		Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376

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, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo...	ORPHA:2198
Plasma Clot Retraction Factor, Deficiency Of	Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing	OMIM:262800
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff...	ORPHA:2924
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abnormal bleeding, Mala...	ORPHA:79301
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia	OMIM:615506
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Familial Hypofibrinogenemia	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding	ORPHA:98881
Porokeratosis 2, Palmar, Plantar, And Disseminated Type	Plantar telangiectasia, Palmar telangiectasia	OMIM:175850
Non-Involuting Congenital Hemangioma	Prominent superficial veins, Telangiectasia of the skin, Congestive heart failure, Hepatic hemang...	ORPHA:141179
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Moyamoya Disease 1	Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Familial Cylindromatosis	Telangiectasia of the skin	ORPHA:211
Rapidly Involuting Congenital Hemangioma	Prominent superficial veins, Telangiectasia of the skin, Congestive heart failure, Hepatic hemang...	ORPHA:141184
Nephrosialidosis	Pericardial effusion, Ascites, Bone-marrow foam cells	OMIM:256150
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble...	ORPHA:326
Mastocytosis, Cutaneous	Urticaria, Erythema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Uv-Sensitive Syndrome 3	Cutaneous photosensitivity, Telangiectasia	OMIM:614640
Capillary Malformation-Arteriovenous Malformation 2	Telangiectasia	OMIM:618196
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa...	ORPHA:1414
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction	OMIM:137560
Familial Multiple Trichoepithelioma	Telangiectasia of the skin	ORPHA:867
Cerebral Cavernous Malformations 2	Cerebral hemorrhage, Telangiectasia	OMIM:603284
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V...	ORPHA:280779
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular...	ORPHA:100082
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular...	ORPHA:100080
Ethanolaminosis	Cardiomegaly	OMIM:227150
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble...	OMIM:231200
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, A...	ORPHA:99828
Burkitt Lymphoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly	ORPHA:294
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ...	ORPHA:328
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Prema...	OMIM:617341
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Moyamoya Disease	Telangiectasia	ORPHA:2573
Telangiectasia, Hereditary Benign	Diffuse telangiectasia	OMIM:187260
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Diabetes mellitus, Myocardial infarction	OMIM:608320
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag...	ORPHA:98878
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ...	ORPHA:229
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage	OMIM:106070
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M...	ORPHA:79456
Congenital Heart Block	Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi...	ORPHA:60041
Uv-Sensitive Syndrome 1	Cutaneous photosensitivity, Telangiectasia	OMIM:600630
Intracranial Hypertension, Idiopathic	Hypertension, Papilledema	OMIM:243200
Rombo Syndrome	Facial telangiectasia	OMIM:180730
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c...	OMIM:605911
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Microcytic anemia, Venous insuffic...	ORPHA:90308
Capillary Malformation-Arteriovenous Malformation 1	Arteriovenous fistula, Arteriovenous malformation	OMIM:608354
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertensio...	ORPHA:64743
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Abdominal pain, Congestive heart failu...	OMIM:235200
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, V...	ORPHA:343
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged...	ORPHA:849
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus	OMIM:166990
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cholecystitis, Intestina...	ORPHA:774
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Cutis marmorata, Abdominal pain, Sple...	ORPHA:91138
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Arterial Dissection-Lentiginosis Syndrome	Arterial dissection, Arteriovenous malformation	ORPHA:1682
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Short stature	ORPHA:1705
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Decre...	ORPHA:79319
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Retinal Telangiectasia And Hypogammaglobulinemia	Retinal telangiectasia	OMIM:267900
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Abnormal autonomic nervous ...	ORPHA:369873
Cutaneous Mastocytoma	Telangiectasia of the skin, Abdominal pain, Angioedema, Erythema, Diarrhea, Darier's sign, Telang...	ORPHA:79455
Vein Of Galen Aneurysmal Malformation	Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:1053
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Overriding aorta, Microcephaly, Abnormal aortic arch morphology, Arteriovenous malformation, Intr...	ORPHA:1110
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph...	OMIM:614702
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegal...	ORPHA:99745
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Hypertension	OMIM:189800
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Neuroendocrine Tumor Of Stomach	Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Hepat...	ORPHA:100075
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Transaldolase Deficiency	Premature skin wrinkling, Telangiectasia, Cirrhosis, Hepatosplenomegaly	ORPHA:101028
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1	Retinal telangiectasia	OMIM:619382
Cerebral Arteriovenous Malformation	Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:46724
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Limited Cutaneous Systemic Sclerosis	Nausea and vomiting, Telangiectasia of the skin, Gastroesophageal reflux, Dysphagia, Pulmonary ar...	ORPHA:220402
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ...	OMIM:239850
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Congenital Factor Xi Deficiency	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong...	ORPHA:329
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Cutis marmorata, Telangiectases producing 'marbled' skin	OMIM:206570
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirr...	OMIM:192315
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia	ORPHA:79279
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Capillary Malformation-Arteriovenous Malformation	Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Abnormality of ...	ORPHA:137667
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi...	ORPHA:779
Pure Autonomic Failure	Abnormality of circulating catecholamine level, Syncope, Abnormal autonomic nervous system physio...	ORPHA:441
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Blue Rubber Bleb Nevus	Intestinal bleeding, Arteriovenous malformation, Microcytic anemia	ORPHA:1059
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Feeding difficulties	OMIM:620368
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Cy...	ORPHA:2038
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cutaneous photosensitivity, Telangiectasia of the skin, Retinal telangiectasia	ORPHA:438134
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Ventriculomegaly, Abnormal neuron morphology	ORPHA:329228
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morp...	ORPHA:53719
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:610947
Hydroa Vacciniforme	Erythema, Hydroa vacciniforme, Telangiectasia of the skin, Cutaneous photosensitivity	ORPHA:330058
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar...	ORPHA:624
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi...	ORPHA:465
Carcinoid Syndrome	Elevated hepatic transaminase, Nausea and vomiting, Tricuspid regurgitation, Right ventricular fa...	ORPHA:100093
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage	ORPHA:1980
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble...	ORPHA:35909
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions	OMIM:602248
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Abdominal pain, Splenomegaly, Jaundice, Diarrhea, Hypertension, Vomiti...	OMIM:121300
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Ascites, Pulmonic stenosis, Restr...	OMIM:619433
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ...	OMIM:193400
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi...	ORPHA:169802
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Congestive heart failure, Arteriovenous malformation	ORPHA:137608
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens...	ORPHA:974
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation	ORPHA:53721
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom...	ORPHA:251992
Hemophilia B	Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma	OMIM:306900
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Moderate Hemophilia A	Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ...	OMIM:115197
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pancreatic adenocarcinoma...	ORPHA:2869
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr...	ORPHA:860
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa...	ORPHA:2494
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas	Arteriovenous fistula	OMIM:600419
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, P...	ORPHA:2414
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Subdural hemorrh...	OMIM:202400
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Cerebral ischemia, Budd-Chiari sy...	OMIM:263300
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach...	ORPHA:44890
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Hypertension, Hypogonadism, Abnormal autonomic nervous system ph...	ORPHA:97229
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in...	ORPHA:85446
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly, Vomiting	ORPHA:158
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Vomiting, Hepatic st...	OMIM:614480
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Chronic diarrhea, Chronic constipation...	OMIM:142680
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Hypersplenism, Abdominal pain, Malabs...	ORPHA:98850
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Abnormal bleeding, Hematemesis, Pr...	ORPHA:274
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh...	ORPHA:97339
Transaldolase Deficiency	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Telangiectasia, Hepatic f...	OMIM:606003
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:615703
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects...	OMIM:620070
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, S...	ORPHA:422
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Telangiectases of the cheeks, Livedo	OMIM:615139
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes...	ORPHA:464321
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Cerebral ischemia, Arteriovenous malformation	ORPHA:60040
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano...	ORPHA:100085
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Preeclampsia	Elevated hepatic transaminase, Elevated diastolic blood pressure, Hypertension, Elevated systolic...	ORPHA:275555
Ataxia-Telangiectasia	Elevated hepatic transaminase, Telangiectasia of the skin, Prematurely aged appearance, Premature...	ORPHA:100
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular failure, Poor appetite, Bowel ...	ORPHA:97287
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat...	OMIM:613313
Phakomatosis Pigmentovascularis	Cerebral calcification, Cerebral cortical atrophy, Arteriovenous malformation	ORPHA:2875
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Meckel Syndrome, Type 8	Pericardial effusion, Occipital encephalocele, Encephalocele, Enlarged kidney	OMIM:613885
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Tempi Syndrome	Intracranial hemorrhage, Ascites, Facial erythema, Telangiectasia	ORPHA:284227
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology...	OMIM:608776
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Telangiectasia	OMIM:608799
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Cutis marmorata, Epistaxis, Abdom...	ORPHA:727
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:280356
Propionic Acidemia	Hepatomegaly, Arrhythmia, Constipation, Cardiomyopathy	ORPHA:35
Pelizaeus-Merzbacher Disease	Cerebral cortical atrophy, Arteriovenous malformation, Short stature, Microcephaly	ORPHA:702
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Elevated circulating alkaline phos...	ORPHA:330001
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the gastrointestinal tract, Dyspepsia, ...	ORPHA:85450
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Maternally-Inherited Diabetes And Deafness	Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi...	ORPHA:225
Familial Partial Lipodystrophy, Köbberling Type	Hypertension, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Poor appetite, Abdominal pain...	ORPHA:319218
Leber Hereditary Optic Neuropathy	Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Ppoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo...	ORPHA:97278
Peroxisome Biogenesis Disorder 8A (Zellweger)	Feeding difficulties in infancy, Hepatomegaly, Jaundice, Elevated circulating aspartate aminotran...	OMIM:614876
Xeroderma Pigmentosum Variant	Cutaneous photosensitivity, Telangiectasia	ORPHA:90342
Galactose Epimerase Deficiency	Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties	ORPHA:79238
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged ble...	OMIM:187900
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Cutis marmorata, Epistaxis, Anorexia, Malabsorption, C...	ORPHA:33226
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Left ventricular noncompaction	OMIM:616501
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage	OMIM:605735
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula...	OMIM:605373
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T...	ORPHA:101016
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Nodular regenerative hyperplasia of liver, Raynaud phenomenon, Punct...	ORPHA:247691
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture, Erythema, Telangiectasia, Cutaneous photosensitivity, Fragile skin	ORPHA:158673
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Elevated circulating ala...	OMIM:615381
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block	ORPHA:85447
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy	OMIM:607685
Familial Cervical Artery Dissection	Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recurrent ce...	ORPHA:36382
Acrogeria	Excessive wrinkled skin, Telangiectasia of the skin, Prematurely aged appearance	ORPHA:2500
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin...	ORPHA:873
Sandhoff Disease	Splenomegaly, Hepatomegaly, Congestive heart failure	ORPHA:796
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri...	OMIM:540000
Persistent Idiopathic Facial Pain	Abnormal autonomic nervous system physiology	ORPHA:398147
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Poor appetite, Jaundice, Fulminant hepatitis, Gingiv...	OMIM:618549
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,...	ORPHA:679
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona...	OMIM:610655
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl...	OMIM:613471
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys...	ORPHA:85451
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp...	OMIM:175050
Melorheostosis	Skeletal muscle atrophy, Peripheral arteriovenous fistula	ORPHA:2485
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Diffus...	OMIM:170100
Partington Syndrome	Facial telangiectasia	ORPHA:94083
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Myelopathy, Cervical myelopathy, Arteriovenous fistula, Distal lowe...	ORPHA:79093
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir...	OMIM:602390
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hyperaldosteronism	OMIM:605635
Scleroderma, Familial Progressive	Abnormal abdomen morphology, Telangiectasia	OMIM:181750
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Diarrhea, Gastroesophageal reflux	OMIM:608971
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ...	OMIM:168000
Necrobiosis Lipoidica	Erythema, Telangiectasia of the skin, Fragile skin	ORPHA:542592
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Abnormality of the gastrointestinal trac...	ORPHA:85443
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth...	OMIM:620135
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Cutis Marmorata Telangiectatica Congenita	Arteriovenous malformation, Patent ductus arteriosus, Telangiectasia of the skin, Arterial stenosis	ORPHA:1556
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Short stature, Intracranial hemorrhage, Myopathy, Arteriovenous malforma...	ORPHA:109
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Esophageal varix, Cirrhosis,...	ORPHA:75234
Lessel-Kubisch Syndrome	Hypertension, Hypogonadism	OMIM:618681
Glutaric Aciduria Iii	Reduced peroxisomal glutaryl-CoA oxidase activity, Hypertension, Hyperthyroidism, Goiter	OMIM:231690
Glucocorticoid Resistance, Generalized	Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s...	OMIM:615962
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta...	ORPHA:3092
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Vomiting	OMIM:230350
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly	ORPHA:46532
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Pl...	ORPHA:36412
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Diabetes mellitus, Diabetes insipidus, Abnormal autonomic nervous system physiology	OMIM:598500
Cardiac-Urogenital Syndrome	Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s...	OMIM:618280
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, P...	OMIM:602347
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Short stature, Bone-marrow foam cells, Cardiomegaly, Facia...	OMIM:256550
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility	ORPHA:230839
Multiple System Atrophy	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:102
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Familial Atrial Myxoma	Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Pedal edema, Dilatation of the cerebral arte...	ORPHA:615
Mucopolysaccharidosis Type 7	Splenomegaly, Umbilical hernia, Arteriovenous malformation	ORPHA:584
Congenital Sialidosis Type 2	Hepatomegaly, Abnormal EKG, Telangiectasia, Hepatosplenomegaly, Ascites, Petechiae	ORPHA:93400
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain	OMIM:619182
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Livedo, Facial telangiectasia, Telangiectasia	OMIM:614564
Ataxia-Oculomotor Apraxia Type 4	Telangiectasia	ORPHA:459033
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Hypertrophic ca...	OMIM:618775
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ...	OMIM:618654
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Urticaria, Petechiae	OMIM:603909
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Currarino Syndrome	Arteriovenous malformation	ORPHA:1552
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Vasculitis in the skin, Petechiae, Purpura	OMIM:620296
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Tetralogy of Fallot, A...	ORPHA:1166
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Ne...	OMIM:214900
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Intesti...	ORPHA:97283
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Grfoma	Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Hepatomegaly, Intermit...	ORPHA:97261
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o...	ORPHA:93672
Squamous Cell Carcinoma Of The Anal Canal	Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedi...	ORPHA:424019
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:613870
Lig4 Syndrome	Hepatomegaly, Telangiectasia of the skin, Malabsorption, Erythema, Cutaneous photosensitivity	ORPHA:99812
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Prolonged bleeding time, Gastritis, Myoc...	ORPHA:809
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Intrauterine growth retardation, Truncus arteriosus, Abnormal aortic morphology, Ventricular sept...	ORPHA:2516
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ...	OMIM:276700
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocar...	ORPHA:171
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Multiple System Atrophy, Parkinsonian Type	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:98933
Diffuse Cutaneous Systemic Sclerosis	Nausea and vomiting, Telangiectasia of the skin, Malabsorption, Congestive heart failure, Xerosto...	ORPHA:220393
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata...	OMIM:235510
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Schöpf-Schulz-Passarge Syndrome	Ectodermal dysplasia, Facial telangiectasia	ORPHA:50944
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventri...	OMIM:252011
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ...	ORPHA:3405
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Jaundice, Ascites	ORPHA:890
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Hypertension, Decreased adiponectin level, Decreased serum leptin	OMIM:615238
Ramon Syndrome	Telangiectasia of the skin	ORPHA:3019
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Cardiac arrest, Dysphagia	ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Card...	OMIM:614096
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties...	OMIM:619048
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Poor wound healing, Dilated cardiomyopathy, Cardiomyopathy, Mitral re...	OMIM:212112
Glucagonoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Necrolytic migratory erythema, Inter...	ORPHA:97280
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myocardial infarction, Anorexia, Abdomin...	ORPHA:3452
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar...	ORPHA:90291
Hemoglobin H Disease	Splenomegaly, Hepatomegaly	OMIM:613978
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Intr...	ORPHA:1923
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis	ORPHA:172
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Spina bifida, Patent ductus arteriosus, Anemia, Leuko...	ORPHA:84
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protei...	OMIM:277175
Cardiomyopathy, Familial Restrictive, 1	Restrictive cardiomyopathy, Ventriculomegaly, Sudden cardiac death	OMIM:115210
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abdominal distention, Portal fibrosis, Hepatic fibro...	ORPHA:369
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Hypertension, Cholestasis	OMIM:105200
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c...	OMIM:171400
Mitchell Syndrome	Abnormal autonomic nervous system physiology	OMIM:618960
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated...	OMIM:208000
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Diarrhea	OMIM:269840
Cutis Marmorata Telangiectatica Congenita	Hypertension, Cutis marmorata, Telangiectasia	OMIM:219250
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi...	ORPHA:91387
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly	OMIM:606445
Inflammatory Bowel Disease 11	Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain	OMIM:191390
Potocki-Shaffer Syndrome	Hypertension, Hypothyroidism, Delayed puberty	ORPHA:52022
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content	OMIM:232700
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Abnormality of the gastrointestinal t...	ORPHA:91139
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Abdominal pain, Portal vein thrombosis, Hepatic necrosis, Hepatic fibrosis, Vomiting	ORPHA:33402
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Cardiomyopathy	OMIM:610717
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Cyanosis	OMIM:613977
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Growth delay, Pleural effusion...	ORPHA:90362
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal...	ORPHA:2041
Angioosteohypotrophic Syndrome	Prominent superficial veins, Telangiectasia of the skin	ORPHA:75508
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Intracranial hemorrhage, Oral cavity bleeding, ...	ORPHA:324636
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st...	OMIM:618234
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Anorexia, Pulmonary emb...	ORPHA:394
Partial Atrioventricular Septal Defect	Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Scimitar Syndrome	Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,...	ORPHA:185
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Multiple System Atrophy, Cerebellar Type	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:227510
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Renal Failure, Progressive, With Hypertension	Hypertension	OMIM:161900
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Diarrhea, Vasculitis	OMIM:601979
Anonychia With Flexural Pigmentation	Macular telangiectasia	ORPHA:69125
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Tetanus	Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, Autonomic b...	ORPHA:3299
Coach Syndrome 2	Elevated hepatic transaminase, Hypertension, Hydrocephalus	OMIM:619111
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Mulibrey Nanism	Hepatomegaly, Short stature, Cardiomegaly, Hydrops fetalis, Myocardial fibrosis, Growth delay, Pe...	OMIM:253250
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami...	OMIM:618805
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Bonnemann-Meinecke-Reich Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly	ORPHA:1261
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Angina pectoris	ORPHA:79292
Aortic Aneurysm, Familial Thoracic 9	Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse	OMIM:616166
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Patent ductus arteriosus, Short stature, Coarctation of aorta	OMIM:615502
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Congenital Enterovirus Infection	Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy...	ORPHA:292
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Gaucher Disease Type 1	Hepatomegaly, Pericardial effusion, Splenomegaly, Pedal edema, Growth delay, Delayed puberty, Abn...	ORPHA:77259
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Peripartum Cardiomyopathy	Tachycardia, Diabetes mellitus, Abnormality of thyroid physiology, Right ventricular failure, Car...	ORPHA:563
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Patent ductus arteriosus, A...	ORPHA:1120
Adiposis Dolorosa	Telangiectasia of the skin, Diarrhea, Xerostomia, Constipation, Bruising susceptibility	ORPHA:36397
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin...	OMIM:231550
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C...	ORPHA:160148
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice	OMIM:237800
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Abnormal bleeding, Hepato...	ORPHA:480520
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Hypertension, Anterior hypopituitarism	ORPHA:181
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart	ORPHA:2001
Congenital Toxoplasmosis	Hepatomegaly, Intrauterine growth retardation, Ascites, Cardiomegaly	ORPHA:858
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Fabry Disease	Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Hype...	OMIM:301500
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa...	ORPHA:31825
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Hemochromatosis, Type 4	Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis	OMIM:606069
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy	OMIM:620089
8P23.1 Microdeletion Syndrome	Short stature, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arterios...	ORPHA:251071
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism	OMIM:145260
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Darier's sign, Urticaria, Abdominal cramps, Generalized abnormality o...	ORPHA:98848
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Edema, Pericardial effusion, Hepatosplenomegaly, Lower limb hypertoni...	OMIM:619487
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Short stature, Postnatal growth retardation, Splenomegal...	OMIM:620210
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splenomegaly, A...	ORPHA:100025
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Abnormal aortic morphology	ORPHA:3222
Lipodystrophy, Familial Partial, Type 4	Hypertension, Insulin-resistant diabetes mellitus	OMIM:613877
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest	ORPHA:168593
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Increased subcutaneous truncal adi...	OMIM:608600
Porphyria Variegata	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia...	ORPHA:79473
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Diarrhea, Intermittent jaundice, Cirrhosis,...	OMIM:601847
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Angioedema, Vasculiti...	ORPHA:761
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Cardiomyopathy, Familial Hypertrophic, 27	Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept...	OMIM:618052
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor...	ORPHA:99050
Dubin-Johnson Syndrome	Hepatomegaly, Abdominal pain, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnorma...	ORPHA:234
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis	ORPHA:231111
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c...	ORPHA:139507
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Type I diabetes mellitus, Hypertension	ORPHA:1192
Hennekam Syndrome	Delayed eruption of teeth, Mild postnatal growth retardation, Camptodactyly of finger, Pericardia...	ORPHA:2136
Solitary Rectal Ulcer Syndrome	Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic constipation, Ten...	ORPHA:209964
Galactose Mutarotase Deficiency	Hepatomegaly, Decreased liver function, Cholestasis	ORPHA:570422
Acute Radiation Syndrome	Abnormal bleeding, Diarrhea, Telangiectasia, Vomiting, Hypotension	ORPHA:454831
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Epistaxis, Splenomegaly, Hepatosplenomegaly, Petechiae	OMIM:612840
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Lymphoproliferative Syndrome 1	Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly	OMIM:613011
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Prolonged QT...	ORPHA:90065
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Feeding difficulties, Vomiting, Bradycardia, Hypertrophic cardiomyo...	OMIM:618235
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Corticosteroid-Binding Globulin Deficiency	Hypertension, Decreased circulating cortisol level, Hypotension	OMIM:611489
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Abnormal bleeding, Cardiom...	ORPHA:57777
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Lynch Syndrome	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Intestinal poly...	ORPHA:144
Superficial Siderosis	Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous malformation, Lower ...	ORPHA:247245
Blue Rubber Bleb Nevus	Rectal prolapse, Abnormality of the liver, Intestinal bleeding, Volvulus, Intussusception	OMIM:112200
Meacham Syndrome	Bicuspid aortic valve, Atrial septal defect, Neonatal death, Scimitar anomaly, Diaphragmatic even...	OMIM:608978
Antisynthetase Syndrome	Aortic regurgitation, Telangiectasia of the skin, Myocarditis, Xerostomia, Dysphagia, Pulmonary a...	ORPHA:81
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,...	OMIM:263200
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Sting-Associated Vasculopathy, Infantile-Onset	Cutis marmorata, Raynaud phenomenon, Erythema, Livedo reticularis, Telangiectasia	OMIM:615934
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Di...	OMIM:235555
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy	ORPHA:300751
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ...	ORPHA:231625
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Alagille Syndrome	Hepatomegaly, Telangiectasia of the skin, Cholestasis, Hypertension, Reduced number of intrahepat...	ORPHA:52
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Classical-Like Ehlers-Danlos Syndrome Type 2	Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V...	ORPHA:536532
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Abnormal vascular morphology, Perica...	ORPHA:781
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo...	OMIM:601005
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous telangiectasia, Dysphagia, Cu...	OMIM:615919
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Atrial fibrillation, Puberty and gonadal disorders, Congestive hea...	ORPHA:525731
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Dysphagia	ORPHA:50251
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Cerebral hemorrhage, Congestive heart failure, Cranial nerve comp...	ORPHA:94080
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Recurrent aphthous stomatitis	OMIM:616622
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Developmental Delay, Language Impairment, And Ocular Abnormalities	Pulmonic stenosis, Facial telangiectasia	OMIM:620141
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct...	ORPHA:980
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios...	ORPHA:284169
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi...	ORPHA:440437
Caribbean Parkinsonism	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunct...	ORPHA:97355
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Cardiomyopathy	OMIM:232400
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h...	OMIM:619178
Diabetic Embryopathy	Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fal...	ORPHA:1926
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology	OMIM:618049
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Alkuraya-Kucinskas Syndrome	Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion	OMIM:617822
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper...	ORPHA:136
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	ORPHA:280679
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Eryt...	ORPHA:913
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertension, Type II d...	OMIM:604367
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Diarrhea, Increased hepatic glycogen content	OMIM:261750
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Stevens-Johnson Syndrome	Acute hepatic failure, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Nausea and vom...	ORPHA:36426
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, D...	ORPHA:26793
Primary Membranoproliferative Glomerulonephritis	Hypertension, Myocardial infarction	ORPHA:54370
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature...	ORPHA:90795
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Variant Abeta2M Amyloidosis	Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology	ORPHA:314652
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia	OMIM:614498
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At...	OMIM:306955
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Abnormal bleeding, Abdominal pain, Rectal prolapse, Adenomatous colo...	ORPHA:79076
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ...	ORPHA:79280
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ...	ORPHA:77261
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
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrops fetalis, Ascites	OMIM:269920
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Nausea and vomiting, Angina pectoris, Transient...	ORPHA:324
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva...	ORPHA:90793
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Colitis, Enterocolitis, Crohn's disease	OMIM:613148
Schnitzler Syndrome	Splenomegaly, Hepatomegaly, Urticaria, Vasculitis	ORPHA:37748
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv...	OMIM:212140
Babesiosis	Nausea and vomiting, Hepatomegaly, Myocardial infarction, Anorexia, Congestive heart failure, Jau...	ORPHA:108
Acute Interstitial Pneumonia	Pericardial effusion, Pleural effusion, Peripheral edema	ORPHA:79126
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Pericardial effusion, Pleural effusion, Ascites	ORPHA:93552
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contr...	OMIM:212065
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Cardiomegaly, Episodic vomiting, H...	OMIM:201475
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co...	ORPHA:2876
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Aapoaiv Amyloidosis	Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca...	ORPHA:439232
Toxic Epidermal Necrolysis	Acute hepatic failure, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Nausea and vom...	ORPHA:537
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Feeding difficulties, Syncope, Palpitations, Diffuse pancreatic islet ...	ORPHA:276556
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyr...	ORPHA:83601
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Spider hemangioma, Chronic pancreatitis, Hypertension, Inflammation of ...	OMIM:232240
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage	OMIM:177850
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Myocard...	ORPHA:3386
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Pedal edema, Abnormal pulmonary vein morphology, Pleural effusion, Pulmonar...	ORPHA:199241
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens...	ORPHA:347
Myhre Syndrome	Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, General...	OMIM:139210
Lipodystrophy, Familial Partial, Type 6	Hypertension, Diabetes mellitus	OMIM:615980
Sneddon Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:820
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Ataxia-Telangiectasia-Like Disorder 1	Telangiectasia	OMIM:604391
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Feeding difficulties, Syncope, Palpitations, Diffuse pancreatic islet ...	ORPHA:276575
Chromosome 6Pter-P24 Deletion Syndrome	Chronic constipation, Telangiectasia	OMIM:612582
Erythermalgia, Primary	Abnormal autonomic nervous system physiology, Palpitations	OMIM:133020
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Hyperinsulinemia	ORPHA:363400
Microphthalmia, Syndromic 9	Atrial septal defect, Severe short stature, Ventricular septal defect, Short stature, Congenital ...	OMIM:601186
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat...	ORPHA:367
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Chronic diarrhea, Enlarged kidney	OMIM:615285
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Hepatomegaly, Abdominal pain	OMIM:618852
Liddle Syndrome 1	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:177200
Heme Oxygenase 1 Deficiency	Elevated circulating aspartate aminotransferase concentration, Epistaxis, Diffuse alveolar hemorr...	OMIM:614034
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven...	ORPHA:1344
Werner Syndrome	Telangiectasia of the skin, Prematurely aged appearance, Myocardial infarction, Congestive heart ...	ORPHA:902
Polycystic Kidney Disease 5	Hypertension	OMIM:617610
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Pericarditis, Congestive heart failure	ORPHA:163596
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte...	ORPHA:77296
Facioscapulohumeral Muscular Dystrophy 1	Dysphagia, Retinal telangiectasia	OMIM:158900
Zygomycosis	Unusual gastrointestinal infection, Colitis, Vomiting, Nausea, Abdominal pain, Hepatitis, Hematoc...	ORPHA:73263
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Abnormal...	ORPHA:75249
Alexander Disease	Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Aqueductal stenosis, H...	ORPHA:58
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abdominal pain, Jaundic...	OMIM:229600
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke	OMIM:615750
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Nephronophthisis 18	Hypertension, Hydrocephalus	OMIM:615862
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly	OMIM:616683
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Takayasu Arteritis	Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi...	ORPHA:3287
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly	ORPHA:466934
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Abnormal bleeding, Heart bloc...	ORPHA:398124
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Chronic dia...	ORPHA:2176
Pfapa Syndrome	Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Splenomegaly	ORPHA:42642
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su...	OMIM:618164
Aa Amyloidosis	Hepatomegaly, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Cholestasis, Vomitin...	ORPHA:85445
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Abnormal lymphatic v...	ORPHA:464329
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Syncope, ...	OMIM:603472
Sneddon Syndrome	Hypertension, Ischemic stroke, Facial palsy, Cerebral hemorrhage	OMIM:182410
Xeroderma Pigmentosum, Complementation Group E	Cutaneous photosensitivity, Telangiectasia	OMIM:278740
Aymé-Gripp Syndrome	Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Postnatal gro...	ORPHA:1272
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy, Ventriculomegaly	OMIM:620314
Senior-Loken Syndrome	Hypertension	ORPHA:3156
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re...	OMIM:614473
Complete Atrioventricular Septal Defect	Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Cyanosis, Right ventricular failure...	ORPHA:1329
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy...	ORPHA:53035
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Feeding diffi...	ORPHA:2394
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties...	OMIM:613489
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypertrophic cardi...	ORPHA:156
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Epidermodysplasia Verruciformis	Telangiectasia of the skin	ORPHA:302
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Ascites, Cutis marmorata, Palmar telangiectasia	ORPHA:69735
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Abdominal pain, Erythema, Urticaria, Vomiting, Hypotension, Arrhythmia	ORPHA:2135
Double Outlet Right Ventricle	Ventricular septal defect, Short stature, Double outlet right ventricle, Coarctation of aorta, Hy...	ORPHA:3426
Wolman Disease	Nausea and vomiting, Hepatomegaly, Splenomegaly, Abdominal distention, Malnutrition, Esophageal v...	ORPHA:75233
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Decreased liver function	OMIM:600666
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic stea...	OMIM:612526
Harderoporphyria	Hepatomegaly, Splenomegaly, Vomiting, Prolonged neonatal jaundice, Cutaneous photosensitivity	OMIM:618892
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Abdominal pain, Malabsorption, Diarrhea, Dysphagia, He...	ORPHA:2070
Alg9-Cdg	Hepatomegaly, Torticollis, Ventricular septal defect, Rhizomelia, Hypoplasia of the musculature, ...	ORPHA:79328
Apparent Mineralocorticoid Excess	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:218030
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abnormal bleeding, Poor...	ORPHA:247598
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Alstrom Syndrome	Elevated hepatic transaminase, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrease...	OMIM:203800
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo...	OMIM:617022
Neuroendocrine Neoplasm Of Appendix	Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i...	ORPHA:100079
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:369929
Livedoid Vasculopathy	Telangiectasia of the skin, Cutis marmorata, Poor wound healing, Hypertension, Ischemic stroke, M...	ORPHA:542643
Poems Syndrome	Edema, Pericardial effusion, Pleural effusion, Ascites, Visceromegaly	ORPHA:2905
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut...	OMIM:169500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Feeding difficulties, ...	ORPHA:79312
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron...	ORPHA:51608
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Bradycardia, Decreased liver function, Pulmonary arterial hyperten...	OMIM:616299
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Prematurely aged appearance, H...	ORPHA:3342
Immunodeficiency, Common Variable, 6	Hepatomegaly, Enlarged kidney, Purpura	OMIM:613496
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly	OMIM:618838
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi...	ORPHA:231580
Abdominal Obesity-Metabolic Syndrome 4	Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:618620
Hyperaldosteronism, Familial, Type Iii	Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Sea-Blue Histiocytosis	Splenomegaly, Hepatomegaly, Abnormal bleeding, Petechiae	ORPHA:158029
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Malabsorption, Splenomegaly	ORPHA:2796
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Postnatal growth retardation, Patent ductus arteriosus, Abnormal cardiac v...	ORPHA:2306
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenocortical ad...	ORPHA:231632
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Chronic diarrhea, Telangiectasia, Cutaneous photosensitivity	OMIM:601675
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu...	ORPHA:96191
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Lig4 Syndrome	Cutaneous photosensitivity, Telangiectasia	OMIM:606593
Acute Liver Failure	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Abnormal bleeding, Jaundice, D...	ORPHA:90062
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Poikiloderma With Neutropenia	Splenomegaly, Telangiectasia	OMIM:604173
Paroxysmal Hemicrania	Hypertension, Diabetes mellitus	ORPHA:157835
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Abnormal autonomic nervous system physiology, Ventriculomegaly	OMIM:617903
Cantú Syndrome	Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert...	ORPHA:1517
Stiff Skin Syndrome	Hypertension, Type II diabetes mellitus	ORPHA:2833
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto...	OMIM:171420
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Hypertension, Elevated circulatin...	ORPHA:94093
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi...	OMIM:616860
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Optic atrophy, Abnormal autonomic nerv...	ORPHA:35069
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Noonan Syndrome 9	Short stature, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Int...	ORPHA:99827
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Enlarged kidney, H...	OMIM:615415
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Hepatomegaly	OMIM:603902
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Hepatomegaly	OMIM:133180
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventriculomegaly	ORPHA:2515
Vascular Ehlers-Danlos Syndrome	Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ...	ORPHA:286
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Intrauterine ...	OMIM:617713
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl...	OMIM:616897
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Dilatation of the cerebral arte...	ORPHA:287
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Ventric...	ORPHA:206559
Xeroderma Pigmentosum, Complementation Group C	Cutaneous photosensitivity, Telangiectasia	OMIM:278720
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Cardiomyopathy	ORPHA:93476
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Telangiectasia of the skin, Malabsor...	ORPHA:1775
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Xeroderma Pigmentosum, Complementation Group D	Cutaneous photosensitivity, Corneal neovascularization, Telangiectasia	OMIM:278730
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology	ORPHA:163921
Xeroderma Pigmentosum, Variant Type	Cutaneous telangiectasia, Cutaneous photosensitivity	OMIM:278750
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Intrahepatic cholestasis, Hypertension, Elevate...	ORPHA:69663
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Aortic dissection	OMIM:135580
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventri...	OMIM:212138
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Patent ductus arteriosus, Growth delay, Coarctation of aorta	OMIM:614857
Pseudohypoaldosteronism, Type Iib	Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Pseudohypoaldosteronism	OMIM:614495
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension	OMIM:616069
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Shor...	OMIM:605275
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Hepatosplenomegaly, Facial te...	OMIM:602782
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Vasculitis, Oligohydramnios, Intrauterin...	OMIM:615846
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Co...	OMIM:614602
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Recurrent intrapulmonary hemorrha...	ORPHA:900
9Q33.3Q34.11 Microdeletion Syndrome	Epistaxis, Telangiectasia, Constipation, Esophagitis, Dysphagia	ORPHA:495818
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Splenomegaly, Jaundice, Malnutrition, Steatorrhea, Exocrine pancreatic insufficiency	OMIM:612714
Pseudohypoaldosteronism, Type Iic	Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea...	ORPHA:263665
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta	OMIM:217085
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Descending aortic dissection, Small thenar eminence, Ascending aortic dissectio...	OMIM:620080
Klippel-Trenaunay-Weber Syndrome	Arteriovenous fistula	OMIM:149000
Noonan Syndrome 10	Ventricular septal defect, Short stature, Patent ductus arteriosus, Increased nuchal translucency...	OMIM:616564
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites	OMIM:618183
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Abdominal pain, Malabsorption, Diarrhea...	OMIM:226300
Hyperphosphatasia-Intellectual Disability Syndrome	Gastrostomy tube feeding in infancy, Aganglionic megacolon, Telangiectasia	ORPHA:247262
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventri...	OMIM:619167
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension	ORPHA:567544
Congenital Disorder Of Glycosylation, Type Ib	Abnormal bleeding, Hepatomegaly, Villous atrophy, Diarrhea, Steatorrhea, Hepatic fibrosis, Vomiti...	OMIM:602579
Griscelli Syndrome Type 2	Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Premature graying of hair, Petechiae	ORPHA:79477
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma...	OMIM:175200
Extracranial Carotid Artery Aneurysm	Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis	ORPHA:494424
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Telangiectasia of the skin	ORPHA:85321
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypothyroidism, Abnormal autonomic nervous system physiology, Hypotension	ORPHA:93256
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Persistent l...	OMIM:618494
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Hypogonadotropic hypogonadism, Autonomic bladder dysfunction, Delayed puberty	ORPHA:447896
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Congenital Hydrocephalus	Hydrocephalus, Optic atrophy, Ventriculomegaly, Colpocephaly	ORPHA:2185
Riddle Syndrome	Conjunctival telangiectasia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Erythema, Tel...	ORPHA:420741
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Congestive heart failure, Splenomega...	OMIM:615895
Focal Segmental Glomerulosclerosis 1	Hypertension	OMIM:603278
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Hypothyroidism, Ventriculomegaly	OMIM:619851
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy	ORPHA:103910
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infan...	OMIM:613070
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Telangiectasia of extensor surfaces, Facial telangiectasia i...	OMIM:137940
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
Seckel Syndrome 10	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:617253
Pparg-Related Familial Partial Lipodystrophy	Diabetes mellitus, Maternal diabetes, Congestive heart failure, Insulin-resistant diabetes mellit...	ORPHA:79083
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Machado-Joseph Disease	Dilated fourth ventricle, Abnormal autonomic nervous system physiology	OMIM:109150
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Abdominal pain...	ORPHA:567983
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio...	ORPHA:79430
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Apparent Mineralocorticoid Excess	Hypertension, Decreased circulating aldosterone level, Abnormality of circulating cortisol level,...	ORPHA:320
Pseudohypoaldosteronism, Type Iie	Hypertension, Pseudohypoaldosteronism	OMIM:614496
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Abnormal mesentery m...	ORPHA:3463
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Portal hypertension, Anorexia, Splenomegaly, Hepatosplenomegaly,...	ORPHA:824
3-Hydroxyisobutyric Aciduria	Hypogonadotropic hypogonadism, Ventriculomegaly	ORPHA:939
Xeroderma Pigmentosum, Complementation Group A	Cutaneous photosensitivity, Telangiectasia	OMIM:278700
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Heterotaxy, Visceral, 5, Autosomal	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc...	OMIM:270100
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Inherited Creutzfeldt-Jakob Disease	Vestibular nystagmus, Abnormal autonomic nervous system physiology	ORPHA:282166
Coenzyme Q10 Deficiency, Primary, 8	Hypertension	OMIM:616733
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Ventriculomegaly	ORPHA:1188
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Hepatomegaly, Prolonged bleeding time, Splenomegaly, Intracranial hemorrhage...	ORPHA:3226
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Stiff-Person Syndrome	Hypertension, Tachycardia, Diabetes mellitus	OMIM:184850
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Hypersplenism, Splenomegaly, Hypertension, Mitral regurgitation, Pulmona...	OMIM:230800
Rett Syndrome	Abnormal autonomic nervous system physiology, Increased serum leptin	ORPHA:778
H Syndrome	Malabsorption, Abnormal cardiovascular system physiology, Hepatosplenomegaly, Facial telangiectas...	ORPHA:168569
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Overlap Myositis	Elevated hepatic transaminase, Diabetes mellitus, Raynaud phenomenon, Hypertension, Pulmonary art...	ORPHA:206572
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension	OMIM:166300
Mosaic Trisomy 16	Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, C...	ORPHA:1708
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto...	OMIM:105210
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy	ORPHA:848
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Feeding difficulties in infancy,...	ORPHA:221
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Nausea and vomiting, Myocardial ...	ORPHA:117
Alpha-N-Acetylgalactosaminidase Deficiency	Lymphedema, Cardiomegaly	ORPHA:3137
Brain Small Vessel Disease 2	Intracranial hemorrhage, Ventriculomegaly	OMIM:614483
Mpdu1-Cdg	Abnormal circulating enzyme concentration or activity, Decreased serum insulin-like growth factor...	ORPHA:79323
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy	OMIM:252920
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive he...	ORPHA:276621
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular...	OMIM:617168
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Cho...	ORPHA:79095
Polyarteritis Nodosa	Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension	ORPHA:767
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of...	OMIM:203300
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival ble...	ORPHA:98870
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Nausea and vomiting, Anorexia, Poor appetite, Malabsorpti...	ORPHA:97282
Juvenile Paget Disease	Hypertension, Optic atrophy	ORPHA:2801
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Ventriculomegaly, Supravalvular aortic ste...	OMIM:618624
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c...	OMIM:230400
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Hereditary Pheochromocytoma-Paraganglioma	Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, C...	ORPHA:29072
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy...	OMIM:251880
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Pontocerebellar Hypoplasia, Type 2E	Facial telangiectasia	OMIM:615851
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypertension, Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltra...	OMIM:613095
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Prolonged neonatal jaundice	OMIM:185000
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating aspartate aminotra...	OMIM:614921
Von Hippel-Lindau Disease	Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic endocrine tumor, My...	ORPHA:892
Proteus Syndrome	Thymus hyperplasia, Decreased muscle mass, Sudden cardiac death, Pulmonary embolism, Splenomegaly...	ORPHA:744
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As...	ORPHA:402075
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Erythema	ORPHA:33577
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Second degree atrioventricular block, Primary hyperaldosteronism, Pulmonary arteria...	OMIM:615474
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ray...	ORPHA:1855
Serotonin Syndrome	Tachycardia, Hypertension, Hypotension, Abnormality of the autonomic nervous system, Hepatic failure	ORPHA:43116
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Short stature, Secundum atrial septal defect, Coarctation of aorta, Pe...	OMIM:600987
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Intraute...	OMIM:300514
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Steator...	ORPHA:79303
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Bloom Syndrome	Poor appetite, Esophageal neoplasm, Telangiectasia, Gastroesophageal reflux, Recurrent gastroente...	ORPHA:125
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Short stature, Vascular dilatation, Cardiomegaly	OMIM:613320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr...	OMIM:300257
Monosomy 18P	Hypertension, Hypothyroidism	ORPHA:1598
Focal Dermal Hypoplasia	Acute hepatic failure, Telangiectasia of the skin, Abdominal pain, Erythema, Gastroesophageal ref...	ORPHA:2092
Adenocarcinoma Of The Anal Canal	Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of t...	ORPHA:424016
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Hepatomegaly, Petechiae	OMIM:611490
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla...	OMIM:208540
Methylcobalamin Deficiency Type Cble	Hypertension, Hydrocephalus, Ventriculomegaly	ORPHA:2169
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Abdominal pain	ORPHA:85414
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension, Decreased li...	OMIM:617021
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Atrial ...	OMIM:617159
Arterial Tortuosity Syndrome	Aortic regurgitation, Progeroid facial appearance, Hiatus hernia, Hypertension, Ischemic stroke, ...	OMIM:208050
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Lateral ventricle dilatation, Normal pressure hydrocephalus, Abnormal aut...	ORPHA:300570
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension, Hypothyroidism	OMIM:617763
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Splenomegaly, Hepatosplenomegal...	ORPHA:576
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Episodic abdominal pain, Cardiomyopathy, Arrhythmia,...	ORPHA:228305
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Aganglionic megacolon, Ventriculomegaly	OMIM:304100
Combined Oxidative Phosphorylation Defect Type 29	Subependymal cysts, Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Incontinentia Pigmenti	Telangiectasia of the skin, Congestive heart failure, Erythema, Retinal hemorrhage, Cerebral isch...	ORPHA:464
Sepsis In Premature Infants	Abnormal bleeding, Hepatomegaly, Tachycardia, Cyanosis, Splenomegaly, Jaundice, Gastrointestinal ...	ORPHA:90051
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil...	OMIM:301068
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly	ORPHA:66661
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abdominal pain, Myocarditis, Splenomeg...	ORPHA:829
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E...	OMIM:243150
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Ventriculomegaly	ORPHA:272
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis	ORPHA:42
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea...	OMIM:265380
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Elevated circulating alanine aminotransferase concentration, Increased he...	OMIM:261680
Secondary Intestinal Lymphangiectasia	Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Right ventricular failure, Celiac...	ORPHA:90363
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Coarctation of aorta	ORPHA:280195
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Abdo...	ORPHA:83469
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Diarrhea, Nausea and vomiting	ORPHA:56425
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Decreased serum insulin-like growth factor 1, Low alkaline phosphatase, Ventri...	ORPHA:314389
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ...	ORPHA:329971
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Cardiogenic shock, Dilated cardiomyo...	OMIM:619424
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,...	ORPHA:565
Joubert Syndrome 14	Hydrocephalus, Optic atrophy, Intracranial hemorrhage, Hypertension, Dandy-Walker malformation	OMIM:614424
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Mucosal telangiectasiae	ORPHA:2463
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Ventriculomegaly	OMIM:613151
Acrocardiofacial Syndrome	Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Coarctation of aorta, Atrial...	ORPHA:2008
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology	OMIM:300894
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Lead Poisoning	Abnormality of the autonomic nervous system, Hypertension, Decreased circulating osteocalcin leve...	ORPHA:330015
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Bradycardia, Ascites, Petechiae	OMIM:617397
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology	OMIM:256800
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly	OMIM:306000
C3 Glomerulopathy	Hypertension	ORPHA:329918
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology	ORPHA:71273
Refsum Disease, Classic	Cardiomyopathy, Limb muscle weakness, Cardiomegaly	OMIM:266500
Alexander Disease Type Ii	Abnormal autonomic nervous system physiology	ORPHA:363722
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila...	ORPHA:449400
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Rothmund-Thomson Syndrome Type 1	Diarrhea, Functional abnormality of the gastrointestinal tract, Facial erythema, Telangiectasia, ...	ORPHA:221008
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnormal cardiovascular system physiology,...	ORPHA:79086
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Jaundice, Splenomeg...	ORPHA:231222
Xeroderma Pigmentosum	Conjunctival telangiectasia, Telangiectasia of the skin, Erythema, Telangiectasia, Cutaneous phot...	ORPHA:910
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Shock, Tachycardia, Epistaxis, Nausea, Abdominal pain, Hematemesis...	ORPHA:340
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Premature thelarche, Atrioventricular block, Hypertension, Type I diabetes mellitus,...	ORPHA:371428
Hallermann-Streiff Syndrome	Hypertension, Pulmonary arterial hypertension, Telangiectasia	OMIM:234100
49,Xxxyy Syndrome	Increased circulating gonadotropin level, Primary gonadal insufficiency, Male hypogonadism, Decre...	ORPHA:261534
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev...	OMIM:616433
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo...	OMIM:175500
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Diarrhea, Asymmetric septal hypertrophy	OMIM:252900
Chédiak-Higashi Syndrome	Edema, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Pleural effusion	ORPHA:167
Denys-Drash Syndrome	Hypertension	ORPHA:220
Coach Syndrome 1	Elevated hepatic transaminase, Hypertension, Optic disc pallor, Portal hypertension	OMIM:216360
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Poor wound healing, Congestive heart failure, Arterial rupture, Exce...	OMIM:225400
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Abdominal pain, Congestive h...	ORPHA:465508
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Achalasia, Telangiectasia of the skin	OMIM:616007
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology	OMIM:614575
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Hypertension, Optic atrophy, Ventriculomegaly	OMIM:610965
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Erythema, Xerostomia, Urti...	ORPHA:2907
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:615812
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Annular pancreas, Cutaneous photosensitivity, Telangiectasia	OMIM:268400
Kindler Syndrome	Esophageal stenosis, Telangiectasia of the skin, Dysphagia, Cutaneous photosensitivity, Fragile skin	OMIM:173650
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Elevated circulating thyroid-stimulating hormone concentration, Hypert...	OMIM:242900
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta	OMIM:614300
Loeys-Dietz Syndrome 4	Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular...	OMIM:614816
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Pituitary Adenoma 4, Acth-Secreting	Hypertension, Pituitary adenoma, Increased circulating ACTH level	OMIM:219090
Hereditary Mixed Polyposis Syndrome	Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D...	ORPHA:157794
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Vomiting	OMIM:201450
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation	OMIM:173900
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Atrial septal defect, Patent foram...	ORPHA:439
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Hepatospleno...	OMIM:608013
Pagod Syndrome	Encephalocele, Short stature, Congenital diaphragmatic hernia, Spina bifida, Situs inversus total...	ORPHA:991
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ...	ORPHA:324410
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Facial palsy	ORPHA:2483
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ...	OMIM:600001
Yellow Fever	Shock, Abnormal bleeding, Acute pancreatitis, Elevated circulating aspartate aminotransferase con...	ORPHA:99829
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema	ORPHA:73224
Adenine Phosphoribosyltransferase Deficiency	Hypertension, Atrial fibrillation, Abnormal circulating enzyme concentration or activity	ORPHA:976
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Bloom Syndrome	Cutaneous photosensitivity, Hepatic steatosis, Facial erythema, Facial telangiectasia in butterfl...	OMIM:210900
1P36 Deletion Syndrome	Feeding difficulties in infancy, Abnormality of the spleen, Pyloric stenosis, Dilated cardiomyopa...	ORPHA:1606
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Muscle fiber atrophy, Decreased muscle mass, Elbow flexion contracture, Limb muscle weakness, Mit...	ORPHA:1900
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cholestatic liver disease, C...	ORPHA:540
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Fragile skin, Telangiectases of the cheeks	OMIM:616295
Bardet-Biedl Syndrome	Hypertension, Hypoplasia of the ovary, Hypogonadism	ORPHA:110
De Sanctis-Cacchione Syndrome	Cutaneous photosensitivity, Telangiectasia	OMIM:278800
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Camptodactyly of toe, Intrauterine growth retardation, Oligohydramnios	ORPHA:158687
Martin-Probst Syndrome	Telangiectasia	OMIM:300519
Toriello-Carey Syndrome	Short stature, Postnatal growth retardation, Patent ductus arteriosus, Coarctation of aorta, Card...	ORPHA:3338
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Haddad Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:99803
Mosaic Variegated Aneuploidy Syndrome 2	Short stature, Ventricular septal defect, Rhizomelia, Coarctation of aorta, Growth delay, Severe ...	OMIM:614114
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Hypertension	ORPHA:449291
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Feeding difficulties in infancy, Elevated circulating alanine aminotr...	ORPHA:308552
Cirrhosis, Familial	Hypertension, Jaundice, Pulmonary arterial hypertension, Fulminant hepatitis	OMIM:215600
Glycogen Storage Disease Ii	Hepatomegaly, Subarachnoid hemorrhage, Cardiomegaly, Splenomegaly, Increased muscle glycogen cont...	OMIM:232300
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Coarctation of aorta, ...	OMIM:617602
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Diarrhea, Esophageal varix, Hepatocell...	ORPHA:264580
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Coarctation of aorta, ...	ORPHA:42775
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto...	OMIM:171300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, O...	OMIM:613154
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Abnormality of thyroid physiology, Congestive heart failure, Hypertens...	ORPHA:1830
Cystic Echinococcosis	Elevated hepatic transaminase, Hepatomegaly, Abnormal peritoneum morphology, Abdominal symptom, P...	ORPHA:400
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormal autonomic nervous system p...	ORPHA:99027
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Thoracic aortic aneurysm, Transient ischemic attack, Glycogen accumulation in muscl...	ORPHA:365
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema...	OMIM:174900
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Coarctation of aorta, Growth delay, Intrauterine growth retardat...	ORPHA:2409
Nephronophthisis 2	Hypertension, Pulmonary insufficiency	OMIM:602088
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Coarctation of aorta, Growth delay, Macroglossia, Abnormal cardiac septum mor...	ORPHA:96147
Lymphangioleiomyomatosis	Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lymphangiomyomatosis	ORPHA:538
Rift Valley Fever	Elevated hepatic transaminase, Abnormal bleeding, Anorexia, Hematemesis, Jaundice, Retinal hemorr...	ORPHA:319251
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Absent brainstem auditory responses, Optic atrophy, Hypertension, ...	ORPHA:90321
Arteriosclerosis, Severe Juvenile	Hypertension, Myocardial infarction, Delayed puberty	OMIM:208060
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Fatal Familial Insomnia	Abnormal autonomic nervous system physiology	OMIM:600072
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C...	OMIM:264480
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Perianal erythema, Poor appetite, Splenomegaly, Diarrhea, Perioral erythema	OMIM:201100
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Ventricular tachycardia, Cardiomyopathy, H...	ORPHA:159
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph...	ORPHA:95699
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Jaundice, Splenic infarction, Hypertens...	OMIM:603903
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Short stature, Double out...	ORPHA:1596
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Bowel incontinence, F...	ORPHA:567
Meester-Loeys Syndrome	Short stature, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dil...	OMIM:300989
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness...	ORPHA:268
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly	OMIM:617967
Sandhoff Disease	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Cherry red...	OMIM:268800
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Glomus ...	OMIM:115310
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Enlarged kidney	ORPHA:276280
Mosaic Variegated Aneuploidy Syndrome	Short stature, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal translucency, Coarctation of ao...	ORPHA:1052
Ochoa Syndrome	Hypertension	ORPHA:2704
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension	OMIM:618061
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Tenorio Syndrome	Raynaud phenomenon, Hydrocephalus, Syncope, Hypoinsulinemia, Ventriculomegaly	OMIM:616260
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Coarctation of aorta	OMIM:618929
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Fanconi Renotubular Syndrome 5	Hypertension	OMIM:618913
Kabuki Syndrome 2	Short stature, Postnatal growth retardation, Coarctation of aorta, Pulmonic stenosis, Atrial sept...	OMIM:300867
Mercury Poisoning	Hypertension, Tachycardia, Hypotension	ORPHA:330021
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension, Hepatic failure	OMIM:619758
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive...	ORPHA:183
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Caudal Regression Syndrome	Hypertension, Maternal diabetes	ORPHA:3027
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature...	ORPHA:580
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Mogs-Cdg	Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Atrial se...	ORPHA:79330
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Primary hyperp...	ORPHA:653
Rothmund-Thomson Syndrome	Nasogastric tube feeding in infancy, Diarrhea, Telangiectasia of the skin, Vomiting	ORPHA:2909
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Monosomy 13Q34	Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Hepatic steatosis	ORPHA:96168
Gitelman Syndrome	Pericardial effusion, Varicose veins, Rhabdomyolysis, Delayed puberty	ORPHA:358
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Malabsorption, Splenomegaly, Pyloric stenosis, Tracheoesophageal fis...	ORPHA:379
Alagille Syndrome 2	Hypertension, Pulmonic stenosis	OMIM:610205
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomegaly, Rhizomelia, ...	OMIM:245600
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Abnormal autonomic nervous system physiology, Abn...	ORPHA:2131
Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly	ORPHA:93474
Atypical Werner Syndrome	Prominent superficial veins, Telangiectasia of the skin, Prematurely aged appearance, Progeroid f...	ORPHA:79474
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Erythema	OMIM:619183
Apert Syndrome	Hypertension, Hydrocephalus, Optic atrophy, Ventriculomegaly	ORPHA:87
Trisomy 20P	Abnormal autonomic nervous system physiology	ORPHA:261318
Oculoectodermal Syndrome	Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Growth del...	OMIM:600268
Nephroblastoma	Hypertension	ORPHA:654
Immunodeficiency 47	Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Tricuspid regurgitation, Elevated ...	OMIM:300972
Acute Transverse Myelitis	Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic nervous system...	ORPHA:139417
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy, V...	OMIM:615688
Fryns Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Abnormal aortic arch morphology, Abnormal cardia...	ORPHA:2059
Long Qt Syndrome 15	Left ventricular noncompaction	OMIM:616249
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia	OMIM:229700
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension, Hydrocephalus, Optic atrophy	ORPHA:1555
Malignant Migrating Focal Seizures Of Infancy	Aortopulmonary collateral arteries	ORPHA:293181
Nestor-Guillermo Progeria Syndrome	Decreased serum leptin, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary ...	OMIM:614008
Ramon Syndrome	Angiokeratoma, Telangiectasia	OMIM:266270
Coats Disease	Retinal telangiectasia	OMIM:300216
Central Hypoventilation Syndrome, Congenital, 1	Abnormal autonomic nervous system physiology, Aganglionic megacolon, Decreased heart rate variabi...	OMIM:209880
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red ...	ORPHA:17
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aort...	OMIM:620025
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Opitz Gbbb Syndrome	Enlarged ovaries, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Pate...	ORPHA:2745
Osteopathia Striata-Cranial Sclerosis Syndrome	Severe short stature, Facial palsy, Coarctation of aorta, Aortic valve stenosis, Spina bifida occ...	ORPHA:2780
Birk-Landau-Perez Syndrome	Hypertension, Optic atrophy	OMIM:617595
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Congenital Tracheal Stenosis	Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct...	ORPHA:141127
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Neuroblastoma, Susceptibility To, 1	Hypertension, Horner syndrome	OMIM:256700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Antenatal intracerebral hemorrhage, Cardiomegaly, Dilated cardiomyopathy, Increased...	OMIM:608836
Lambert-Eaton Myasthenic Syndrome	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	ORPHA:43393
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Abnormal heart morphology...	ORPHA:284984
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Short stature, Coarctation of aorta	OMIM:617260
Argininemia	Hepatomegaly, Anorexia, Micronodular cirrhosis, Cholestasis, Portal fibrosis, Vomiting, Episodic ...	OMIM:207800
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sh...	ORPHA:217085
2Q37 Microdeletion Syndrome	Umbilical hernia, Abnormal aortic morphology, Short stature, Congenital diaphragmatic hernia	ORPHA:1001
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hydrocephalus, Optic atrophy, Ventriculomegaly	OMIM:123790
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis	OMIM:194380
Intellectual Developmental Disorder, Autosomal Dominant 70	Feeding difficulties, Retinal telangiectasia	OMIM:620157
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu...	ORPHA:79443
Young-Onset Parkinson Disease	Abnormal autonomic nervous system physiology	ORPHA:2828
Cadds	Elevated hepatic transaminase, Ventriculomegaly, Adrenal hypoplasia	ORPHA:369942
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Hypothyroidism, Abnormal autonomic nervous system physiology	ORPHA:453499
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sh...	ORPHA:217093
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, Hydrocephalus, Lateral ventricular asymmetry	OMIM:616914
Tick-Borne Encephalitis	Elevated hepatic transaminase, Facial palsy, Abnormal glossopharyngeal nerve morphology, Abnormal...	ORPHA:297
Paternal Uniparental Disomy Of Chromosome 1	Hypertension, Delayed puberty	ORPHA:251004
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus arteriosus, Hypoplastic a...	OMIM:617506
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating lactate dehydrogenase concentration, Elev...	ORPHA:466677
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypertension, Hyperaldosteronism, Increased circulating renin level	OMIM:612780
Fg Syndrome Type 1	Progressive flexion contractures, Short stature, Mitral valve prolapse, Coarctation of aorta, Atr...	ORPHA:93932
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology	ORPHA:247234
Renal Hypodysplasia/Aplasia 1	Hypertension	OMIM:191830
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hypertension, Delayed puberty	OMIM:232200
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ...	OMIM:617718
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Hypothyroidism	ORPHA:98808
Gaisböck Syndrome	Diabetes mellitus, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood ...	ORPHA:90041
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Umbilical hernia, Arthrogr...	OMIM:618143
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypertension, Orthostatic hypotension, Tachycardia	OMIM:223900
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly	OMIM:181000
Poliomyelitis	Hypertension, Hypovolemic shock, Abnormal motor nerve conduction velocity, Hypotension	ORPHA:2912
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Abnormal autonomic nervous system physiology	OMIM:601559
Hurler Syndrome	Angina pectoris, Hydrocephalus, Cardiomyopathy, Hypertension, Abnormal nerve conduction velocity	ORPHA:93473
Lipodystrophy, Familial Partial, Type 2	Hypertension, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus	OMIM:151660
Nmda Receptor Encephalitis	Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Abnormal autonomic nerv...	ORPHA:217253
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Ventriculomegaly, Increased serum testosterone level	ORPHA:96181
Familial Dysautonomia	Hypertension, Orthostatic hypotension, Optic atrophy, Tachycardia	ORPHA:1764
Hereditary Spherocytosis	Hepatomegaly, Restrictive cardiomyopathy, Abdominal pain, Splenomegaly, Jaundice, Abdominal diste...	ORPHA:822
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Cardiomegaly	OMIM:619259
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Large vessel vasculi...	OMIM:301000
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Reduced circulating growth hormone concentration, Ventriculomegaly	OMIM:616430
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Low-output congestive heart failure, Cardiomyopathy,...	ORPHA:565612
Eisenmenger Syndrome	Ventricular tachycardia, Abnormality of the liver, Supraventricular tachycardia, Abnormal bleedin...	ORPHA:97214
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis	OMIM:226100
Carey-Fineman-Ziter Syndrome	Ventriculomegaly, Facial palsy, Hypertensive crisis	ORPHA:1358
Parkinson Disease, Late-Onset	Abnormal autonomic nervous system physiology	OMIM:168600
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Hereditary Fructose Intolerance	Hepatomegaly, Nausea, Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting, Constip...	ORPHA:469
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Atrial septal def...	OMIM:300855
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Bardet-Biedl Syndrome 1	Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, Hypertension, Hypogonadism	OMIM:209900
Giant Cell Arteritis	Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent...	ORPHA:397
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hypertension, Inf...	OMIM:232220
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia...	ORPHA:293987
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Jaundice	OMIM:616689
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C...	ORPHA:137675
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Cryoglobulinemia, Familial Mixed	Hypertension	OMIM:123550
Ramos-Arroyo Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:1051
Turcot Syndrome With Polyposis	Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He...	ORPHA:99818
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Premature graying of hair, Intestinal bleeding, Gastrointestinal telangiectasia, Retinal telangie...	OMIM:612199
Fucosidosis	Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Cherr...	OMIM:230000
Galloway-Mowat Syndrome 3	Hypertension, Ventriculomegaly	OMIM:617729
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Patent ductus arterios...	OMIM:618454
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramni...	ORPHA:1692
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Short stature, Pulmonary artery stenosis, Coarc...	ORPHA:261494
Familial Exudative Vitreoretinopathy	Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization	ORPHA:891
Plague	Abnormal bleeding, Hepatomegaly, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly...	ORPHA:707
Cockayne Syndrome A	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hyperten...	OMIM:216400
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Cowden Syndrome	Enlarged polycystic ovaries, Colorectal polyposis, Hamartomatous polyposis, Mucosal telangiectasiae	ORPHA:201
Parkinsonian-Pyramidal Syndrome	Abnormal autonomic nervous system physiology	ORPHA:171695
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Hepatomegaly, Epistaxis, Diarrhea, Prolonged bleeding following procedure, Hep...	ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Optic disc pallor, Optic atrophy, Shortened PR interval, Hyperten...	OMIM:614947
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Abdominal pain, Splenomegaly, Peritonitis, Diarrhea, Episodic abdomin...	OMIM:249100
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Splenomegaly, Myelopathy, Growth de...	OMIM:252500
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypertension, Mitra...	ORPHA:363618
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Porphyria, Acute Intermittent	Hypertension, Tachycardia	OMIM:176000
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Angina pectoris	ORPHA:412
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation	OMIM:618343
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal...	ORPHA:1507
Hydrolethalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:614120
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Coarctation ...	OMIM:617088
Gabriele-De Vries Syndrome	Facial hypotonia, Aortopulmonary collateral arteries, Distal arthrogryposis, Intrauterine growth ...	OMIM:617557
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Premature graying of ha...	ORPHA:163746
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Hydrocephalus, Small pituitary gland, Ventriculomegaly	OMIM:614195
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Coarctat...	OMIM:616145
Choreoacanthocytosis	Elevated circulating aspartate aminotransferase concentration, Abnormal erythrocyte enzyme level,...	ORPHA:2388
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Abnormal internal carotid artery morphology, Tendon xanthomatosis, Pe...	ORPHA:391665
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Palmar telangiectasia	OMIM:607823
Beta-Ketothiolase Deficiency	Hypertension, Hypotension	ORPHA:134
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hypothyroidism, Hepatitis, Ventriculomegaly	OMIM:304790
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Polyhydramnios, Patent ductus arteriosus, Aortic rupture, Myopathy, Type...	OMIM:614557
Senior-Boichis Syndrome	Elevated hepatic transaminase, Hypertension, Elevated circulating alkaline phosphatase concentrat...	ORPHA:84081
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Mitral regurgitation, Aortic valve stenosis, Pulmonary arterial...	OMIM:614185
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Spina bifida, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial pals...	OMIM:619480
Acute Intermittent Porphyria	Hypertension, Tachycardia, Abnormal circulating enzyme concentration or activity	ORPHA:79276
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Short stature, Cardiomegaly, Calcification of the aorta, A...	ORPHA:51
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Congestive heart failure, Hepatic failure, Ventriculomegaly	OMIM:619355
Alport Syndrome 2, Autosomal Recessive	Hypertension	OMIM:203780
Combined Oxidative Phosphorylation Deficiency 39	Type I diabetes mellitus, Ventriculomegaly, Sinus bradycardia	OMIM:618397
Igg4-Related Retroperitoneal Fibrosis	Renovascular hypertension, Large vessel vasculitis, Hypertension, Budd-Chiari syndrome, Hashimoto...	ORPHA:49041
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Hypertension	OMIM:301050
Leptospirosis	Nausea and vomiting, Hepatomegaly, Pericarditis, First degree atrioventricular block, Anorexia, A...	ORPHA:509
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
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:614052
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hypertension	OMIM:612924
Immunodeficiency 87 And Autoimmunity	Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated cardiomyopathy, ...	OMIM:619573
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar...	ORPHA:2396
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Descending aortic dissection, Meningocele, D...	ORPHA:558
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Feeding difficulties in infancy, Nasogastric tube feeding in infancy...	ORPHA:508488
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Anorexia, Mala...	OMIM:557000
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98754
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hypertension	OMIM:612925
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Abnormal circulating enzyme concentration or activity, Subdural hemo...	ORPHA:25
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia...	ORPHA:348
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida,...	OMIM:274000
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Truncus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Facial palsy, Spina bifida,...	ORPHA:508498
Marshall-Smith Syndrome	Optic nerve hypoplasia, Hydrocephalus, Premature ventricular contraction, Hypertension, Pulmonary...	OMIM:602535
Orofaciodigital Syndrome Vi	Occipital meningocele, Hypoplastic left heart, Short stature, Coarctation of aorta	OMIM:277170
Leprosy	Abnormality of the seventh cranial nerve, Abnormality of the adrenal glands, Epistaxis, Abnormal ...	ORPHA:548
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra...	ORPHA:2162
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Hypertension, Pheochromocytoma, Parathyroid adenoma	OMIM:162200
Neurofibroma	Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnormal biliary tract morphology	ORPHA:252183
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98793
Primary Progressive Freezing Gait	Hypertension	ORPHA:75567
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Cardiomegaly	OMIM:620306
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Cardiomyopathy, Hepatomegaly, Cardiomegaly	ORPHA:228308
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocep...	ORPHA:805
Renal Hypoplasia, Bilateral	Hypertension	ORPHA:97362
Nephronophthisis 1	Hypertension	OMIM:256100
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Umbilical hernia, Ab...	ORPHA:581
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177904
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta	ORPHA:268249
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177901
Papillorenal Syndrome	Hypertension, Optic disc coloboma	OMIM:120330
Wagro Syndrome	Hypertension	OMIM:612469
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:99889
Bohring-Opitz Syndrome	Facial hypotonia, Short stature, Cardiomegaly, Bilateral wrist flexion contracture, Congenital co...	ORPHA:97297
Focal Dermal Hypoplasia	Hiatus hernia, Intestinal malrotation, Telangiectasia	OMIM:305600
Von Hippel-Lindau Syndrome	Hypertension, Pheochromocytoma, Paraganglioma	OMIM:193300
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Rectal prolapse, Diarrhea, Ileus, Biliary cirrhosis, Hepatosplenome...	OMIM:219700
Meckel Syndrome, Type 1	Occipital encephalocele, Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Large p...	OMIM:249000
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, Colon can...	ORPHA:261584
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Autosomal Dominant Polycystic Kidney Disease	Hypertension, Pituitary growth hormone cell adenoma	ORPHA:730
Robinow Syndrome	Ventricular septal defect, Short stature, Coarctation of aorta, Abnormal heart morphology, Pulmon...	ORPHA:97360
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Abnormality of the peripheral nervous system, Raynaud pheno...	ORPHA:48435
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Female hypogonadism, Mitral stenosis, Decreased serum leptin, Angina pector...	ORPHA:740
Oligomeganephronia	Hypertension, Optic disc coloboma	ORPHA:2260
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At...	OMIM:619472
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypertension, Increased circulating lactate dehydrogenase concentration, Myocardial infarction	ORPHA:90038
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypertension, Hypotension	OMIM:174000
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Gastrointestinal stroma tumor, Renovascular hypertension, Hypertensio...	ORPHA:97685
Renal Hypoplasia	Hypertension	ORPHA:93101
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Short stature, Coarctation of aorta	OMIM:244450
Cockayne Syndrome B	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hyperten...	OMIM:133540
Au-Kline Syndrome	Hypertension, Ventriculomegaly	OMIM:616580
Noonan Syndrome 1	Ventricular septal defect, Short stature, Lymphedema, Postnatal growth retardation, Patent ductus...	OMIM:163950
Cockayne Syndrome	Elevated hepatic transaminase, Optic disc pallor, Diabetes mellitus, Decreased nerve conduction v...	ORPHA:191
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati...	ORPHA:314769
Schimmelpenning-Feuerstein-Mims Syndrome	Growth delay, Short stature, Coarctation of aorta	OMIM:163200
Jacobsen Syndrome	Ventricular septal defect, Short stature, Spina bifida, Coarctation of aorta, Growth delay, Hypop...	ORPHA:2308
Mucoepithelial Dysplasia, Hereditary	Melena, Chronic diarrhea, Corneal neovascularization	OMIM:158310
Myhre Syndrome	Precocious puberty, Hypertension, Hypogonadism	ORPHA:2588
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Rabin-Pappas Syndrome	Feeding difficulties, Retinal telangiectasia	OMIM:620155
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati...	ORPHA:963
Intellectual Disability-Alacrima-Achalasia Syndrome	Abnormality of the adrenal glands, Ventriculomegaly	ORPHA:289483
Arima Syndrome	Dilated fourth ventricle, Hypertension, Optic atrophy	OMIM:243910
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Optic atrophy, Hypogonadism, Ventriculomegaly	OMIM:610651
Scalp-Ear-Nipple Syndrome	Type I diabetes mellitus, Hypertension	ORPHA:2036
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Short stature, Abnor...	ORPHA:124
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension	OMIM:235400
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, At...	ORPHA:904
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hypertension, Diabetes mellitus, Hypertensive crisis	ORPHA:544482
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Anhidrotic ectodermal dysplasia, Splenomegaly, Chronic diarrhea, Recurrent infectio...	OMIM:612132
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Precocious puberty, Hydrocephalus, Hypertension, Colpocephaly, Hypertrophi...	OMIM:270400
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Short stature, Coarctation of aorta, Small thenar ...	OMIM:105650
Mullegama-Klein-Martinez Syndrome	Short stature, Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic l...	OMIM:301022
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Pulmonary arterial hypertension	OMIM:613834
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Short stature, Polyhydramnios, Spina bifida, Postnatal growth retardat...	OMIM:180849
Blau Syndrome	Hypertension, Pericarditis, Abnormal cranial nerve morphology	OMIM:186580
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Lateral ventricle dilatation, Congestive heart failure	OMIM:181270
Bartter Syndrome Type 4	Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren...	ORPHA:89938
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Hypertension, Dandy-Walker malformation	ORPHA:2750
Stüve-Wiedemann Syndrome	Hypothyroidism, Abnormal autonomic nervous system physiology, Ectopic thyroid	ORPHA:3206
Posterior Urethral Valve	Hypertension	ORPHA:93110
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Elevated hepatic transaminase, High urinary gonadotropin level, Myocardial...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Elevated hepatic transaminase, High urinary gonadotropin level, Myocardial...	ORPHA:99228
Monosomy X	Prolonged QT interval, Elevated hepatic transaminase, High urinary gonadotropin level, Myocardial...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Elevated hepatic transaminase, High urinary gonadotropin level, Myocardial...	ORPHA:881
Loeys-Dietz Syndrome	Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arteri...	ORPHA:60030
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S...	ORPHA:116
Adams-Oliver Syndrome 1	Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension, Aortic valve stenosis, Ventricu...	OMIM:100300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Short stature, Patent ductus arteriosus, Vascul...	ORPHA:353281
Yunis-Varon Syndrome	Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Postnatal growth retardat...	ORPHA:3472
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hypertension, Ventriculomegaly	OMIM:266920
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Pulmonary embolism	ORPHA:567546
Nephronophthisis-Like Nephropathy 1	Hypertension	OMIM:613159
Neurofibromatosis Type 1	Abnormality of the endocrine system, Precocious puberty, Hydrocephalus, Hypertension, Pheochromoc...	ORPHA:636
Esophageal Atresia	Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Growth delay, Tetralogy of Fallot	ORPHA:1199
Orofaciodigital Syndrome I	Hypertension, Hydrocephalus	OMIM:311200
Renal Agenesis	Hypertension	ORPHA:411709
Osteogenesis Imperfecta	Abnormal endocardium morphology, Short stature, Rhizomelia, Cerebral hemorrhage, Flexion contract...	ORPHA:666
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypertension, Optic atrophy	OMIM:617913
20Q13.33 Microdeletion Syndrome	Hematochezia	ORPHA:261311
Singleton-Merten Syndrome 1	Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Pleural effu...	OMIM:182250
Alport Syndrome 3A, Autosomal Dominant	Hypertension	OMIM:104200
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ...	ORPHA:1359
Alkaptonuria	Hypertension, Myocardial infarction	ORPHA:56
Alport Syndrome	Hypertension	ORPHA:63
Lipodystrophy, Familial Partial, Type 7	Type I diabetes mellitus, Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension	OMIM:606721
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Abnormal erythrocyte enzyme level, Jaundice, Hypertens...	ORPHA:447
Marfan Syndrome	Decreased muscle mass, Bicuspid aortic valve, Flexion contracture, Mitral annular calcification, ...	OMIM:154700
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Mitral regurgitation	OMIM:611962
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia...	OMIM:130650
Autosomal Dominant Cutis Laxa	Postnatal growth retardation, Dilatation of the ventricular cavity, Coarctation of aorta, Intraut...	ORPHA:90348
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Kabuki Syndrome	Abnormal cardiac septum morphology, Short stature, Congenital diaphragmatic hernia, Coarctation o...	ORPHA:2322
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Short stature, Postnatal growth...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Short stature, Postnatal growth...	ORPHA:353277
Abetalipoproteinemia	Hepatomegaly, Distal lower limb muscle weakness, Myopathy, Cardiomegaly	ORPHA:14
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hypertension	OMIM:613610
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def...	OMIM:118450
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Polyhydramnios, Hydrops fetalis, Coarctation of aorta, Neonatal short-limb short stature	ORPHA:50945
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Optic disc coloboma, Ventriculomegaly	OMIM:120200
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Cardiomegaly, Sple...	OMIM:256040
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ...	OMIM:612474
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Aqueductal stenosis, Decreased...	OMIM:620305
Floating-Harbor Syndrome	Short stature, Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mesocardia, Persiste...	OMIM:136140
Nicolaides-Baraitser Syndrome	Short stature, Coarctation of aorta, Growth delay, Umbilical hernia, Mild short stature, Intraute...	OMIM:601358
Denys-Drash Syndrome	Hypertension	OMIM:194080
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Lymphedema, Pericardial effusion, Intracranial hemorrh...	ORPHA:79318
African Trypanosomiasis	Abnormal EKG, Pericarditis, Papilledema, Abnormality of the endocrine system, Myocarditis, Conges...	ORPHA:3385
Blau Syndrome	Pericarditis, Facial palsy, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertensio...	ORPHA:90340
Congenital Disorder Of Glycosylation, Type Iim	Hypertension, Lateral ventricle dilatation	OMIM:300896
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Left ventricul...	OMIM:220111
Igg4-Related Kidney Disease	Pericarditis, Pedal edema, Abnormal aortic morphology, Arteritis, Enlarged kidney	ORPHA:449395
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Short stature, Coarctation of aorta, Delayed puberty, Muscle hypertrophy o...	ORPHA:1772
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Chronic constipation, Feeding difficulties	OMIM:619575
Pallister-Hall Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Intraut...	ORPHA:672
Williams-Beuren Syndrome	Diabetes mellitus, Portal hypertension, Early onset of sexual maturation, Hypertension, Mitral re...	OMIM:194050
Ctcf-Related Neurodevelopmental Disorder	Atrial septal defect, Patent ductus arteriosus, Joint contracture of the 5th finger, Coarctation ...	ORPHA:363611
Pierson Syndrome	Hypertension, Retinal hemorrhage	OMIM:609049
Systemic Lupus Erythematosus	Raynaud phenomenon, Hypertension	ORPHA:536
Floating-Harbor Syndrome	Short stature, Tetralogy of Fallot, Coarctation of aorta, Growth delay, Atrial septal defect, Mes...	ORPHA:2044
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Hypertension, Aganglionic megacolon, Corneal neovascularization, Ventriculomegaly	OMIM:308205
Kabuki Syndrome 1	Ventricular septal defect, Short stature, Postnatal growth retardation, Coarctation of aorta, Gro...	OMIM:147920
Renal Dysplasia	Hypertension	ORPHA:93108
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct...	OMIM:164210
Trichorhinophalangeal Syndrome, Type Ii	Scapular winging, Internal carotid artery dissection, Bicuspid aortic valve, Mild postnatal growt...	OMIM:150230
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Pallister-Killian Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Rhizomelia, Congenital diaphragmatic hern...	OMIM:601803
Mowat-Wilson Syndrome	Bicuspid aortic valve, Pulmonary artery sling, Short stature, Patent ductus arteriosus, Flexion c...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv...	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Short stature...	ORPHA:261537

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 Acvrl1

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 Acvrl1.

No publications found that use IMPC mice or data for Acvrl1.

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MGI Allele	Allele Type	Produced
Acvrl1^{em1(IMPC)Mhzh}	Deletion	Mice
Acvrl1^{tm367150(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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