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Gene: Hras MGI:96224

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Harvey rat sarcoma virus oncogene
Synonyms:
Hras1,  c-rasHa,  Harvey-ras,  H-ras,  Hras-1,  Ha-ras,  c-H-ras

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 Hras 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ascites, Chylous
Chylous ascites OMIM:208300
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Chylous Ascites
Neoplasm, Lymphedema, Ascites ORPHA:1160
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Abnormal hair whorl, Right ventricular hypertrophy, Ventricular septal defe... OMIM:614261
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Depressed nasal ridge, Malar flattening, Prominence of the pr... ORPHA:2412
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Wide anterior fontanel, Right ventricular hypertrophy, Thin upper lip vermilion, Patent ductus ar... OMIM:613623
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Glycogen Storage Disease 0, Muscle
Stroke, Left ventricular hypertrophy, Decreased muscle glycogen content, Left atrial enlargement,... OMIM:611556
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Pulmonic stenosis, Micrognathia, Aplasia/Hypoplasia of the eyeb... ORPHA:1131
Fetal Parvovirus Syndrome
Hydrops fetalis, Increased nuchal translucency, Ascites ORPHA:295
Congenital Pulmonary Veins Atresia Or Stenosis
Abnormal cardiac septum morphology, Hypertension ORPHA:3188
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Microretrognathia, Right ventricular hypertrop... ORPHA:324604
Burn-Mckeown Syndrome
Cleft upper lip, Atrial septal defect, Unilateral renal agenesis, Micrognathia, Thin vermilion bo... OMIM:608572
Potocki-Shaffer Syndrome
Exostoses, Micropenis, Micrognathia, Depressed nasal tip, Broad nasal tip, Nephroblastoma, Hypoth... ORPHA:52022
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Micrognathia, Hypospadias, Camptodactyly, Renal insufficiency, Hydr... OMIM:611209
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Flared nostrils, Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Retr... ORPHA:280679
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Pili torti, Cleft upper lip, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Micrognath... ORPHA:3253
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticomedulla... OMIM:616733
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Convex nasal ridge, Hypoplasia of the zygomatic bone, Carious teeth, ... ORPHA:1110
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Cutaneous melanoma, Broad nasal tip, Everted lower lip vermilion, S... OMIM:137550
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Myofibrillar Myopathy 10
Flexion contracture of finger, Left ventricular hypertrophy, EMG: myopathic abnormalities, Prolon... OMIM:619040
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Wide anterior fontanel, Renal tubular dysfunction,... OMIM:614886
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Toluene Embryopathy
Thin vermilion border, Micrognathia, Hypoplasia of the zygomatic bone, Short nose, Abnormal local... ORPHA:1920
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypoplasia of penis, Abnormality of the nares, Hypogonadotropic hypogonadism, Hypoplasia of the z... ORPHA:1295
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Ventricular hypertro... OMIM:619048
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Bulbous nose, Pulmonic stenosis, Depressed nasal bridge, Coarctation of ao... ORPHA:284169
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Nephrotic syndrome, Nephropathy, Cerebral artery atherosclerosi... ORPHA:1192
Lessel-Kubisch Syndrome
Sparse pubic hair, Narrow nasal bridge, Renal hypoplasia, Renal insufficiency, Hypogonadism, Hype... OMIM:618681
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Atrial septal defect, Renal tubular acidosis, Renal tubular atrop... OMIM:208085
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Depressed nasal ridge, Everted lower lip vermilion, Sparse body hair, Aplasia/Hypopl... ORPHA:181
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Stroke-like episode, Hyper... ORPHA:563
Marshall Syndrome
Thick upper lip vermilion, Sparse hair, Sparse eyebrow, Sparse eyelashes, Malar flattening, Micro... ORPHA:560
Nager Syndrome
Aplasia/Hypoplasia of the eyebrow, Micrognathia, Abnormal nasal morphology, Unilateral renal agen... ORPHA:245
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... OMIM:612201
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Cantu Syndrome
Thick upper lip vermilion, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Conge... OMIM:239850
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Preauricular skin fur... ORPHA:1555
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Holoprosencephaly
Depressed nasal ridge, Depressed nasal tip, Ventricular septal defect, Median cleft lip and palat... ORPHA:2162
Chromosome 9P Deletion Syndrome
Atrial septal defect, Fair hair, Malar flattening, Micropenis, Retrognathia, Micrognathia, Depres... OMIM:158170
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Hypercalciuria, Adrenal hyperplasia, Prolo... ORPHA:251274
Cardiofaciocutaneous Syndrome
Sparse hair, Depressed nasal bridge, Sparse or absent eyelashes, Short nose, Anteverted nares, Ca... ORPHA:1340
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect, Malar flattening, Depressed nasal bridge, H... ORPHA:261295
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hydrops fetalis, Hemangiomatosis, Polyhydramnios, Ascites, Visceral angiomatosis ORPHA:2123
Frontonasal Dysplasia 1
Joint contracture of the hand, Broad nasal tip, Bifid nose, Tetralogy of Fallot, Camptodactyly, P... OMIM:136760
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Hypoplasia of penis, Aplasia/Hypoplasia of the eyebrow, Retrognathia, Depre... ORPHA:1812
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Hypothyroidism, Myopathy, Cardiom... OMIM:617713
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Hepatomegaly, Ascites OMIM:619433
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Micrognathia, Hyperplasia of the maxilla, Depressed nasal bridge, Full... OMIM:617616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Micropenis, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Macro... OMIM:613156
Maternally-Inherited Diabetes And Deafness
Type II diabetes mellitus, Arrhythmia, Proteinuria, Renal insufficiency, Glomerulopathy, Hyperten... ORPHA:225
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose, Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Hajdu-Cheney Syndrome
Hepatomegaly, Coarse hair, Ventricular septal defect, Abnormal mandible morphology, Absent fronta... ORPHA:955
Orofaciodigital Syndrome Type 1
Sparse hair, Alopecia, Coarse hair, Proteinuria, Pancreatic cysts, Micrognathia, Vascular dilatat... ORPHA:2750
Burn-Mckeown Syndrome
Abnormal cardiac septum morphology, Bilateral choanal atresia, Short nose, Prominent nasal bridge... ORPHA:1200
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... OMIM:102200
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Atrial septal defect, Flexion contracture, Micropenis, Tachycardia, Ventricular sep... OMIM:613870
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... OMIM:601894
Prolidase Deficiency
Hirsutism, Low anterior hairline, Generalized hirsutism, Hepatomegaly, Depressed nasal ridge, Spl... ORPHA:742
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... OMIM:610205
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Supernumerary nipple, Patchy alopecia, Sparse eyelashes, Sparse body hair, Micro... OMIM:106260
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephrogenic diabetes insipidus, Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Right ventri... OMIM:613404
Joubert Syndrome 35
Depressed nasal bridge, Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal f... OMIM:618161
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Fabry Disease
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Ventricular sep... OMIM:301500
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Sparse eyelashes, Alopecia, Micrognathia, Hydroureter, Everted lower lip v... OMIM:616367
Cohen Syndrome
Thick hair, Low anterior hairline, Thick eyebrow, Micrognathia, Hypoplasia of the zygomatic bone,... ORPHA:193
Flat Face-Microstomia-Ear Anomaly Syndrome
Sparse eyebrow, Malar flattening, Micrognathia, Long nose, Camptodactyly of finger, Hypoplasia of... ORPHA:1968
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Diastasis recti, Pulmonary valve atresi... OMIM:265380
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... OMIM:267010
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Stroke, Lacunar stroke, Hypertension, Transient ischemic attack, Dilation of Virchow-Robin spaces OMIM:616779
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Ascites OMIM:600461
Acrofacial Dysostosis, Catania Type
Microretrognathia, Hypospadias, Coarse hair, Abnormal hair pattern, Preauricular pit, Hypoplasia ... ORPHA:1786
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary aterial intimal fibrosis, Right ventricular hypertrophy... OMIM:178600
Pituitary Gigantism
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:99725
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Anteverted nares, Wide nose, Hypoplasia of the zygomatic bone ORPHA:3074
Tangier Disease
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy, Myo... OMIM:205400
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Stroke, Tricuspid regurgitation, Left ventricular hypertrophy, Atr... OMIM:614022
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Ascites, Hepatomegaly ORPHA:2198
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Stroke, Atrial arrhythmia, Tendon ru... ORPHA:85451
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Hypoplasia of the zygomatic bone, Mandibular prognathia, Cryptorchidism, Low posterior hairline, ... ORPHA:1778
Familial Median Cleft Of The Upper And Lower Lips
Abnormality of orbicularis oris muscle, Cleft upper lip, Abnormal midface morphology, Abnormality... ORPHA:401942
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... OMIM:613874
Dysostosis, Stanescu Type
Convex nasal ridge, Macroglossia, Exostoses, Abnormal nasal morphology, Hypoplasia of the zygomat... ORPHA:1798
Lowry-Maclean Syndrome
Convex nasal ridge, Congenital diaphragmatic hernia, Atrioventricular canal defect, Retrognathia,... ORPHA:2409
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydrocele testis, Proximal muscle weakness in lower limbs, Short nose, Tented upper lip vermilion... ORPHA:280633
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Chromosome 13Q33-Q34 Deletion Syndrome
Low hanging columella, Pulmonic stenosis, Left ventricular hypertrophy, Micrognathia, Hypospadias... OMIM:619148
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Basal cell carcinoma, Pleural effusion, Ovarian fibroma, Ascites ORPHA:314473
Johnson Neuroectodermal Syndrome
Bulbous nose, Absent eyebrow, Sparse hair, Alopecia, Everted lower lip vermilion, Tetralogy of Fa... ORPHA:2316
Bamforth-Lazarus Syndrome
Abnormal hair quantity, Retrognathia, Congenital hypothyroidism, Choanal atresia, Thyroid agenesis ORPHA:1226
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Treacher-Collins Syndrome
Hypoplasia of the maxilla, Thyroid hypoplasia, Midface retrusion, Cleft upper lip, Hypoplasia of ... ORPHA:861
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Congenital Fibrinogen Deficiency
Micropenis, Right ventricular hypertrophy, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... ORPHA:335
Distal Trisomy 18Q
Hypoplasia of penis, Micrognathia, Camptodactyly of finger, Abnormal hair pattern, Carious teeth,... ORPHA:1716
Alpha-Heavy Chain Disease
Ascites, Hepatomegaly, Lymphoma, Splenomegaly ORPHA:100025
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla... OMIM:166300
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Bifid nasal tip, Wide nose, Thin upper lip vermilion, Choanal atresia, Abno... ORPHA:521308
Antley-Bixler Syndrome
Camptodactyly of finger, Abnormal renal morphology, Hypoplasia of the zygomatic bone, Short nose,... ORPHA:83
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral ischemia, Sync... ORPHA:90065
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... OMIM:615355
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Edinburgh Malformation Syndrome
Generalized hirsutism, Hirsutism, Thin vermilion border, Micrognathia, Short nose, Choanal atresi... ORPHA:1895
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Stroke, Decreased circulating renin level, Left ventricu... ORPHA:320
Williams Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery morphology, S... ORPHA:904
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, P... OMIM:618619
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... OMIM:161900
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria ORPHA:2613
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... ORPHA:86812
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Bilateral cryptorchidism, Narrow nasal bridge, Patent ductus arteriosu... ORPHA:466791
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites OMIM:174050
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... ORPHA:444013
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Elevated systolic blood pressure, Elevated cir... ORPHA:275555
Malignant Peritoneal Mesothelioma
Neoplasm, Pedal edema, Ascites ORPHA:168811
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular hypertrophy, Right ventricular failure, Syncope, Pulmonary art... OMIM:265400
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Nephrogenic diabetes insipidus, Supernumerary tooth, Micrognathia, Hypoplasia of the zygomatic bo... ORPHA:3145
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... ORPHA:54370
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Decreased circulating renin level, Left ventricular hypertrophy, Ventricular sep... OMIM:615474
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:613944
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613876
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... OMIM:616818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Hydrops Fetalis
Neoplasm, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ed... ORPHA:1041
Malan Syndrome
Everted lower lip vermilion, Retrognathia, Advanced eruption of teeth, Short nose, Hyperplasia of... OMIM:614753
Mucopolysaccharidosis, Type X
Nephrolithiasis, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp... OMIM:619698
Paget Disease Of Bone 6
Coronary artery atherosclerosis, Left ventricular hypertrophy, Nephrocalcinosis OMIM:616833
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... ORPHA:3208
Hepatic Veno-Occlusive Disease
Ascites, Hepatomegaly ORPHA:890
Ablepharon Macrostomia Syndrome
Absent eyebrow, Sparse hair, Hypoplasia of penis, Thin vermilion border, Depressed nasal bridge, ... ORPHA:920
Takayasu Arteritis
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Vasculitis, Cerebral ischemia, Myo... ORPHA:3287
Marshall-Smith Syndrome
Hypertrichosis, Sparse hair, Depressed nasal bridge, Eclabion, Ventricular septal defect, Short n... OMIM:602535
Trimethylaminuria
Trimethylaminuria, Hypertension, Tachycardia, Splenomegaly OMIM:602079
Splenoportal Vascular Anomalies
Ascites, Splenomegaly OMIM:271500
Cleidocranial Dysplasia
Sinusitis, Supernumerary tooth, Micrognathia, Depressed nasal bridge, Delayed eruption of teeth, ... ORPHA:1452
Andersen-Tawil Syndrome
Bulbous nose, Bidirectional ventricular ectopy, Hypoplasia of the maxilla, Prolonged QT interval,... ORPHA:37553
3Mc Syndrome 2
Diastasis recti, Torticollis, Cleft upper lip, Hypoplasia of the musculature, Prominence of the p... OMIM:265050
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... OMIM:603965
Aapoaiv Amyloidosis
Cardiac amyloidosis, Chronic kidney disease, Left bundle branch block, Abnormal renal medulla mor... ORPHA:439232
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Bronchopulmonary Dysplasia
Right ventricular failure, Right ventricular hypertrophy ORPHA:70589
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Dystrop... OMIM:616028
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Unilateral renal agenesis, Ventricular septal defect, Patent ductus arterio... OMIM:608406
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Lower limb hypertonia, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly... OMIM:619487
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Wide nasal bridge, Midface retrusion, Pulmonary artery atresia, Ventricular... ORPHA:401935
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Midshaft hypospadias, Micrognathia, Depressed nasal tip, Camptodactyly ... ORPHA:2863
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Splenomegaly, Hydrops fetalis, Pleural effusion, Ascites ORPHA:2414
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Hypertension, Pulmonary ar... OMIM:613355
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Prominent nasal bridge, Hypoplasia of the zygomatic bone ORPHA:319171
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Ascites, Splenomegaly ORPHA:1046
Simpson-Golabi-Behmel Syndrome, Type 1
Hypertrichosis, Hepatomegaly, Hepatoblastoma, Short nail, Depressed nasal bridge, Enlarged kidney... OMIM:312870
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Retrognathia, Left ventricular hypertrophy, Facial palsy, Scapu... ORPHA:169186
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy OMIM:614458
Rere-Related Neurodevelopmental Syndrome
Micrognathia, Broad eyebrow, Hypospadias, Ventricular septal defect, Choanal atresia, Anteverted ... ORPHA:494344
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... ORPHA:567544
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Hepatomegaly, Flexion contracture, Splenomegaly, Pulmonic ... OMIM:608149
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Alagille Syndrome
Telangiectasia of the skin, Peripheral pulmonary artery stenosis, Nephrotic syndrome, Atrial sept... ORPHA:52
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Charge Syndrome
Abnormal cardiac septum morphology, Depressed nasal bridge, Delayed eruption of teeth, Horseshoe ... ORPHA:138
Oligomeganephronia
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Pulmo... ORPHA:2260
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Joubert Syndrome 14
Malar flattening, Renal cyst, Tented upper lip vermilion, Prominent nasal bridge, Hypertension, H... OMIM:614424
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Renal insufficiency, Abnormal aortic morphology, Hypertension, Cardiomyopathy ORPHA:3222
Nestor-Guillermo Progeria Syndrome
Sparse eyebrow, Alopecia, Right bundle branch block, Midface retrusion, Hypertension, Flexion con... OMIM:614008
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Bulbous nose, Low anterior hairline, Hypoplastic left heart, ... OMIM:301022
Gapo Syndrome
Nephrolithiasis, Sparse eyebrow, Sparse eyelashes, Alopecia, Micrognathia, Early balding, Depress... ORPHA:2067
Cardiac-Valvular Ehlers-Danlos Syndrome
Bulbous nose, Thick eyebrow, Atrial septal defect, Tricuspid regurgitation, Tendon rupture, Left ... ORPHA:230851
Pfeiffer Syndrome
Mandibular prognathia, Wide nasal bridge, Hypoplasia of the zygomatic bone ORPHA:710
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized hirsutism, Right ventricular hypertrophy, Increased variability in muscle fiber diame... OMIM:612949
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Micrognathia, Broad nasal tip, Hypoplastic left at... OMIM:615524
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Maxillozygomatic hypoplasia, Delayed eruption of teeth, Malar flattening ORPHA:2972
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Absence of renal corticomedullary differentiation, Retrognathia, B... OMIM:619758
Severe Oculo-Renal-Cerebellar Syndrome
Malar prominence, Hypoplasia of the zygomatic bone, Proteinuria, Renal insufficiency, Glomerulopa... ORPHA:2715
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Thin upper lip vermilion, Midf... OMIM:618737
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Hypertension, Patent ductus arteriosus, Arrhythmia OMIM:617021
Cranioectodermal Dysplasia 2
Atrial septal defect, Sparse hair, Sparse eyebrow, Sparse eyelashes, Retrognathia, Left ventricul... OMIM:613610
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... OMIM:613237
Vici Syndrome
Cleft upper lip, Left ventricular hypertrophy, Micrognathia, Hypopigmentation of hair, Penile hyp... OMIM:242840
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Depressed nasal bridge, Short nose, Wide nose, Vascular dilatation, Anteverted nares, Hypertensio... OMIM:613320
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Trichorhinophalangeal Syndrome, Type Ii
Bulbous nose, Sparse hair, Scapular exostoses, Carious teeth, Myocardial infarction, Mandibular p... OMIM:150230
Intellectual Disability, Wolff Type
Bulbous nose, Microretrognathia, Hypospadias, Camptodactyly of finger, Non-midline cleft lip, Cry... ORPHA:3080
Familial Cervical Artery Dissection
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Facial palsy, Subarachnoid hemo... ORPHA:36382
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension OMIM:607832
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... ORPHA:1677
Grange Syndrome
Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus, Hyp... ORPHA:79094
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Convex nasal ridge, Aortic valve stenosis, Pulmonary artery stenosi... OMIM:208050
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... OMIM:618719
Secondary Intestinal Lymphangiectasia
B-cell lymphoma, Chylous ascites, Lymphoma, Intestinal lymphedema, Lymphedema, Anasarca, Pleural ... ORPHA:90363
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nervous system,... ORPHA:83469
Fg Syndrome Type 1
Atrial septal defect, Small pituitary gland, Malar flattening, Micrognathia, Frontal upsweep of h... ORPHA:93932
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Intracranial hemorrhage, Ventricular septal defect, Adrenal hyperplasia, Abnorma... ORPHA:369929
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricula... OMIM:619167
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Polycystic ovaries, Hypertension, Coronary art... ORPHA:79084
Pde4D Haploinsufficiency Syndrome
Prominent nasal tip, Malar flattening, Elevated circulating parathyroid hormone level, Micrognath... ORPHA:439822
Hypervitaminosis A, Susceptibility To
Ascites OMIM:240150
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Hypertrichosis, Muscular ventricular septal defect, Retrognathia, Unilateral renal agenesis, Rena... OMIM:619227
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Malar flattening, Right vent... OMIM:300967
Werner Syndrome
Telangiectasia of the skin, Ovarian neoplasm, Neoplasm of the small intestine, Myocardial infarct... ORPHA:902
Aarskog-Scott Syndrome
Cleft upper lip, Everted lower lip vermilion, Camptodactyly of finger, Wide nasal bridge, Delayed... ORPHA:915
Pallister-Hall Syndrome
Hypothalamic hamartoma, Decreased circulating cortisol level, Depressed nasal bridge, Midline fac... OMIM:146510
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations, Elevated pulmonary artery p... ORPHA:275766
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Chromosome 15Q26-Qter Deletion Syndrome
Abnormal cardiac septum morphology, Micropenis, Micrognathia, Hypospadias, Cryptorchidism, Wide n... OMIM:612626
Intellectual Developmental Disorder, Autosomal Recessive 68
Broad eyebrow, Hypoplasia of the maxilla, Synophrys, Wide nasal bridge OMIM:618302
Mogs-Cdg
Hydrocele testis, Hirsutism, Atrial septal defect, Fair hair, Hepatomegaly, Alopecia, Retrognathi... ORPHA:79330
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Hematuria, Abnormal myocardium morphology, Proteinur... ORPHA:324
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... ORPHA:57777
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Hypospadias, Coarctation of aorta, Ventricular septal defect, H... ORPHA:1923
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Abnormality of the nares, Short nose, Hypoplasia o... ORPHA:1248
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Premature coronary artery atherosclerosis, Myocardial infarction, Hype... OMIM:615703
Congenital Hypothyroidism
Nephrolithiasis, Sinusitis, Abnormality of the thyroid gland, Abnormal pericardium morphology, De... ORPHA:442
Woods Syndrome
Supernumerary nipple, Low hanging columella, Thin vermilion border, Frontal hirsutism, Ventricula... OMIM:615236
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Type II diabetes mellitus, Broad nasal tip, Renovascular hypertension, Aor... ORPHA:401923
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:161950
Nablus Mask-Like Facial Syndrome
Low anterior hairline, Sparse hair, Sparse eyebrow, Sparse eyelashes, Retrognathia, Depressed nas... OMIM:608156
Mulibrey Nanism
Myocardial fibrosis, Dental malocclusion, Congestive heart failure, Hepatomegaly, Depressed nasal... OMIM:253250
Microform Holoprosencephaly
Hypoplasia of penis, Renal agenesis, EMG: myopathic abnormalities, Panhypopituitarism, Hemangioma... ORPHA:280200
Popov-Chang syndrome
Pulmonic stenosis, Long nose, Coarse hair, Depressed nasal bridge, Thick vermilion border, Anteve... OMIM:618428
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... ORPHA:84090
Hurler Syndrome
Angina pectoris, Generalized hirsutism, Thick eyebrow, Hepatomegaly, Macroglossia, Splenomegaly, ... ORPHA:93473
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Retrognathia, Abnormal nasal morphol... ORPHA:93110
Baraitser-Winter Syndrome 1
Cleft upper lip, Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Retrognathia, Wide nas... OMIM:243310
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Proteinuria, Hypertension OMIM:105200
Coronary Artery Disease, Autosomal Dominant 2
Myocardial infarction, Sudden cardiac death, Hypertension, Diabetes mellitus OMIM:610947
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... ORPHA:437572
Fontaine Progeroid Syndrome
Absent nipple, Hypertrichosis, Depressed nasal bridge, Coarse hair, Short nose, Mandibular progna... OMIM:612289
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Right ventricular hypertrophy, Type 2 muscle fiber atrophy, Scapular wingin... ORPHA:98915
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, EMG: myopathic abnormalities, Heart murmur, Ragged-red muscle fiber... OMIM:615418
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Aortic valve stenosis, Sparse hair, Absent eyebrow, Aortic atherosclerotic ... ORPHA:363618
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Malar flattening, Micrognathia, Preauricular skin tag, Ventricular septal d... OMIM:610536
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla, Malar flattening OMIM:122880
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Flexion contracture, Micrognathia, Long nose, Narrow nose, Narrow nasal bri... OMIM:309520
Congenital Disorder Of Glycosylation, Type Iir
Ascites, Hepatomegaly OMIM:301045
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endocarditis, He... ORPHA:183
Lujan-Fryns Syndrome
Atrial septal defect, Micrognathia, Camptodactyly of finger, Hypoplasia of the maxilla, Prominent... ORPHA:776
Mental Retardation, Buenos Aires Type
Dental malocclusion, Atrial septal defect, Fair hair, Hypospadias, Abnormality of the urinary sys... OMIM:249630
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Camptodacty... ORPHA:1529
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Micrognathia, Tetralogy o... ORPHA:3304
Microcephaly 10, Primary, Autosomal Recessive
Micrognathia, Choanal atresia, Arthrogryposis multiplex congenita, Prominent nasal bridge OMIM:615095
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Fibrosarcoma, Pleural effusion, Ovarian fibroma, Ascites ORPHA:314478
Carpenter Syndrome 1
Precocious puberty, Atrial septal defect, Persistence of primary teeth, Malar flattening, Joint c... OMIM:201000
Sneddon Syndrome
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke OMIM:182410
Filippi Syndrome
Hypertrichosis, Sparse hair, Low hanging columella, Thin vermilion border, Frontal hirsutism, Ven... OMIM:272440
Monosomy 18P
Alopecia, Micrognathia, Carious teeth, Hypothyroidism, Hypertension, Low posterior hairline, Wide... ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Low anterior hairline OMIM:613153
Distal Xq28 Microduplication Syndrome
Aplasia/Hypoplasia of the eyebrow, Broad nasal tip, Recurrent upper respiratory tract infections,... ORPHA:293939
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hypertrichosis, Bulbous nose, Atrial septal defect, Depressed nasal bridge, Renal dysplasia, Unil... OMIM:300968
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Pelvic girdle muscle atrophy, Elevated circulating lu... ORPHA:3044
Axenfeld-Rieger Syndrome, Type 2
Everted lower lip vermilion, Hypospadias, Hypoplasia of the maxilla, Mandibular prognathia, Crypt... OMIM:601499
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Abnormal cardiac septum morphology, Renal hypoplasia/aplasia, Hypop... ORPHA:2166
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla, Facial hypotonia OMIM:618383
Osteolysis Syndrome, Recessive
Broad nasal tip, Hypoplasia of the maxilla, Elbow flexion contracture, Knee flexion contracture OMIM:259610
Lymphoproliferative Syndrome 2
Hodgkin lymphoma, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Hepatosplenomegaly, L... OMIM:615122
Treacher Collins Syndrome 2
Micrognathia, Choanal atresia, Choanal stenosis OMIM:613717
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Maxillozygomatic hypoplasia, Short nose, Patent ductus arteriosus, Choanal ... ORPHA:1790
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Elevated circulating parathyroid hormone level, Depressed nasal bridge, Wide nas... OMIM:122860
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Micrognathia, Multiple renal cysts, Te... ORPHA:1166
Kleefstra Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Ventricular septal defect, Short nose, Ten... ORPHA:261494
Chromosome 3Pter-P25 Deletion Syndrome
Bulbous nose, Low hanging columella, Atrioventricular canal defect, Retrognathia, Micrognathia, B... OMIM:613792
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Sparse eyebrow, Pulmonic stenosis, Left ventricular hypert... OMIM:616564
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Generalized hirsutism, Hepatomegaly, Hypertrophic cardiomyopathy, Splen... ORPHA:79083
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent bronchiolitis, Hypertension, Long eyelashes OMIM:616069
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Hypoplasia of the maxilla, Choanal atresia, Malar flattening ORPHA:93262
Premature Aging Syndrome, Penttinen Type
Sparse hair, Thin vermilion border, Micrognathia, Narrow nose, Delayed eruption of teeth, Midface... OMIM:601812
Mandibuloacral Dysplasia Progeroid Syndrome
Bulbous nose, Hepatomegaly, Sparse hair, Sparse eyebrow, Tricuspid regurgitation, Flexion contrac... OMIM:619127
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Calf muscle hypertrophy, Insulin-resistant diabetes mellitus at puberty, Abnorm... ORPHA:280356
German Syndrome
Abnormal cardiac septum morphology, Abnormal eyebrow morphology, Everted lower lip vermilion, Mic... ORPHA:2077
Acro-Renal-Mandibular Syndrome
Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Abnormality of the sense of smell, Mic... ORPHA:958
Distal Monosomy 12Q
Bulbous nose, Congenital hypertrophy of left ventricle, Maturity-onset diabetes of the young, Mic... ORPHA:96149
Split-Hand/Foot Malformation 3
Microretrognathia, Camptodactyly, Renal hypoplasia, Hypoplasia of the maxilla, Nail dystrophy OMIM:246560
Stickler Syndrome Type 1
Mitral valve prolapse, Short nose, Hypoplasia of the maxilla ORPHA:90653
Schimke Immuno-Osseous Dysplasia
Stroke, Broad nasal tip, Depressed nasal bridge, Lymphoproliferative disorder, Non-Hodgkin lympho... ORPHA:1830
Lessel-Kreienkamp Syndrome
Dental malocclusion, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductu... OMIM:619149
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Cutis Laxa, Autosomal Recessive, Type Ib
Bulbous nose, Convex nasal ridge, Congenital diaphragmatic hernia, Prominence of the premaxilla, ... OMIM:614437
Glycogen Storage Disease Iv
Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Edema, Ascites OMIM:232500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Thick eyebrow, Microretrognathia, Congenital diaphra... OMIM:245600
Distal 22Q11.2 Microdeletion Syndrome
Neoplasm, Atrial septal defect, Malar flattening, Aortic aneurysm, Camptodactyly of finger, Recur... ORPHA:261330
Melorheostosis With Osteopoikilosis
Hypertension, Multiple lipomas ORPHA:1879
Zechi-Ceide Syndrome
Atrial septal defect, Postauricular skin tag, Thin vermilion border, Wide nose, Mandibular progna... ORPHA:217017
Bardet-Biedl Syndrome
Generalized hirsutism, Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicys... ORPHA:110
Dental Anomalies And Short Stature
Hypertrichosis, Mitral valve prolapse, Hypoplasia of the maxilla, Mandibular prognathia, Amelogen... OMIM:601216
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Temporomandibular joint ankylosis, Sparse hair, Abnormal hair whorl, Micropenis, Mic... ORPHA:2872
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal hypoplasia/aplasia, Renal agenesis, Micrognathia, Abnormal periauricular region morphology,... ORPHA:2516
Combined Oxidative Phosphorylation Deficiency 5
Ascites, Edema OMIM:611719
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia, Camptodactyly of finger, Hypoplasia of the maxilla, Decreased testicular size, C... ORPHA:85279
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Craniofacioskeletal Syndrome
Atrial septal defect, Micrognathia, Hypospadias, Ventricular septal defect, Hypoplastic frontal s... OMIM:300712
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Pulmonary artery stenosis, Atrioventr... ORPHA:251071
Cornelia De Lange Syndrome 1
Depressed nasal bridge, Delayed eruption of teeth, Ventricular septal defect, Long eyelashes, Pro... OMIM:122470
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Bulbous nose, Depressed nasal bridge, Short nose, Microphallu... OMIM:618454
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Narrow maxilla, Long nose, Hypospadias, Na... OMIM:617602
Bladder Cancer
Bladder neoplasm, Transitional cell carcinoma of the bladder OMIM:109800
Schimke Immunoosseous Dysplasia
Bulbous nose, Nephrotic syndrome, Stroke, Transient ischemic attack, Depressed nasal bridge, Coar... OMIM:242900
Sneddon Syndrome
Arterial stenosis, Intracranial hemorrhage, Nephropathy, Hypertension ORPHA:820
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, 3-hydroxydicarboxylic aciduria, Lef... OMIM:619355
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Low anterior hairline, Flexion contracture, Short nose, Hypoplasia of the maxill... OMIM:218000
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Microretrognathia, Depressed nasal bridge, Patent ductus arteriosus, Vascu... OMIM:220220
Senior-Loken Syndrome
Hypertension, Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease ORPHA:3156
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Malar flattening, Micrognathia, Morgagni diaphragmatic hernia, R... OMIM:613309
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Atrial septal defect, Malar flattening, Flexion contracture, Depressed na... OMIM:207410
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Left ventricular hypertrophy, Mitral regurgitation, ... ORPHA:746
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Ascites OMIM:617156
Alport Syndrome
Diffuse leiomyomatosis, Glomerular C3 deposition, Hematuria, Thickened glomerular basement membra... ORPHA:63
Choanal Atresia And Lymphedema
Choanal atresia, Pericardial effusion OMIM:613611
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Thick eyebrow, Microretrognathia, Tricuspid regurgitation, Hypoplasia of the maxilla, Absent eyel... ORPHA:228396
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Malar flattening, Patent ductus arteriosus, Patent foramen ovale, Vesicoure... OMIM:601450
Orofaciodigital Syndrome I
Cleft upper lip, Microretrognathia, Sparse hair, Supernumerary tooth, Alopecia, Ovarian cyst, Hyp... OMIM:311200
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Prominent nasal bridge OMIM:608432
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Hypospadias, Arrhythmia, 3-Methylglutaconic aciduria, Anteverted nares, Hypert... OMIM:614052
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Depressed nasal bridge, Hypospadias, Tetralo... OMIM:618316
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Malar flattening, Micropenis, Micrognathia, Hypospadias, Promine... OMIM:300978
Scalp-Ear-Nipple Syndrome
Abnormality of the endocrine system, Sparse hair, Renal agenesis, Depressed nasal bridge, Pyelone... OMIM:181270
Atypical Werner Syndrome
Telangiectasia of the skin, Hyperinsulinemia, Ovarian neoplasm, Alopecia, Neoplasm of the small i... ORPHA:79474
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Perlman Syndrome
Capillary hemangioma, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, Hyperinsul... ORPHA:2849
Portal Hypertension, Noncirrhotic, 2
Ascites, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly OMIM:619463
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Malar flattening, Abnormal carotid artery morphology, Aortic aneurysm... ORPHA:3342
Viss Syndrome
Tortuous cerebral arteries, Alopecia, Depressed nasal bridge, Aortic tortuosity, Pulmonary artery... OMIM:619472
Intellectual Developmental Disorder, Autosomal Recessive 45
Bulbous nose, Thick eyebrow, Retrognathia, Synophrys, Thick vermilion border, Anteverted nares, H... OMIM:615979
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly OMIM:269920
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypertension, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Mucolipidosis Type Ii
Diastasis recti, Abnormal mitral valve morphology, Telangiectases of the cheeks, Abnormal atriove... ORPHA:576
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Malar flattening, Micrognathia, Hypoplasia of the maxilla, Patent ductus ar... OMIM:241310
Frontofacionasal Dysplasia
Absent inner eyelashes, Depressed nasal ridge, Aplasia/Hypoplasia of the eyebrow, Depressed nasal... ORPHA:1791
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Capillary hemangioma, Atrial septal defect, Micropenis, Hypospadias, Intracranial hemorrhage, Ove... ORPHA:163979
Simple Cryoglobulinemia
Multiple myeloma, Stroke, Myocardial infarction, Proteinuria, Gastrointestinal hemorrhage, Perica... ORPHA:91139
Seckel Syndrome 10
Hyperplasia of midface, Microretrognathia, Elevated circulating luteinizing hormone level, Glycos... OMIM:617253
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Congestive heart failure, Aortic valve stenosis, Tricuspid regurgitation, Everted l... ORPHA:324410
Familial Atrial Myxoma
Pedal edema, Ascites, Cardiac myxoma ORPHA:615
Spastic Paraplegia 16, X-Linked
Urinary bladder sphincter dysfunction, Lower limb amyotrophy, Urinary urgency, Lower limb muscle ... OMIM:300266
Braddock-Carey Syndrome 1
Sparse hair, Everted lower lip vermilion, Multicystic kidney dysplasia, Camptodactyly, Ventricula... OMIM:619980
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Micrognathia, Depressed nasal bridge, Ventricular septal defect, Renal hypop... ORPHA:2256
Sweeney-Cox Syndrome
Generalized hirsutism, Wide anterior fontanel, Micrognathia, Choanal atresia, Widow's peak, Short... OMIM:617746
Cohen Syndrome
Facial hypotonia, Macrodontia of permanent maxillary central incisor, Thick eyebrow, Decreased re... OMIM:216550
Apert Syndrome
Ovarian neoplasm, Convex nasal ridge, Depressed nasal bridge, Delayed eruption of teeth, Hypoplas... ORPHA:87
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... ORPHA:2041
Crouzon Syndrome
Convex nasal ridge, Hypoplasia of the maxilla, Choanal atresia, Midface retrusion ORPHA:207
Pentasomy X
Abnormal cardiac septum morphology, Micrognathia, Camptodactyly of finger, Patent ductus arterios... ORPHA:11
X-Linked Intellectual Disability, Porteous Type
Frontal balding, Bulbous nose, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Retrognathia, Ventricular septal defect, Choanal atresia, Patent ductus arteriosus, Prominent nas... ORPHA:52055
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Mitral regurgitation, Mitral valve prolapse, Polycystic kidney dysplasia... OMIM:173900
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Convex nasal ridge, Hypoplasia of the maxilla OMIM:156510
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Hypoplasia of the maxilla, Midface retrusion ORPHA:2776
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Hirsutism, Atrial septal defect, Nodular go... ORPHA:371428
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Bulbous nose, Decreased circulating androgen concentration, Decreased circulating cortisol level,... ORPHA:95699
8Q12 Microduplication Syndrome
Atrial septal defect, Everted lower lip vermilion, Highly arched eyebrow, Ventricular septal defe... ORPHA:228399
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse eyebrow, Facial hirsutism, Depressed nasal tip, Carious teeth, Hypoplasia of the maxilla, ... OMIM:604292
Extracranial Carotid Artery Aneurysm
Stroke, Subarachnoid hemorrhage, Upper limb muscle weakness, Vasculitis, Cerebral ischemia, Total... ORPHA:494424
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Micrognathia, Hypercalciuria, Choanal atresia, Knee flexion ... OMIM:156400
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Situs inversus totalis, D... OMIM:613095
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Retrognathia, Ventricular septal defect, Choanal atresia, Patent ductus arteriosus, Bilateral cry... OMIM:300472
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Micrognathia, Broad nasal tip, Camptodactyly, Short nose, Long eyelashes, ... OMIM:618529
Craniofaciofrontodigital Syndrome
Hypertrichosis, Stroke, Anomalous branches of internal carotid artery, Depressed nasal bridge, Sa... ORPHA:363705
Moyamoya Disease With Early-Onset Achalasia
Stroke, Raynaud phenomenon, Moyamoya phenomenon, Abnormal cerebral vascular morphology, Hypertension ORPHA:401945
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Multiple lipomas, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic ca... ORPHA:1349
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Micrognathia, Diaphragmatic... OMIM:601186
Holoprosencephaly 9
Cleft upper lip, Dental malocclusion, Hypoplasia of the premaxilla, Decreased response to growth ... OMIM:610829
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Oligosacchariduria, Macroglossia, Left ventricular outflow tract obstruction, Left ... ORPHA:308552
Frasier Syndrome
Nephrotic syndrome, Streak ovary, Hypergonadotropic hypogonadism, Nephroblastoma, Focal segmental... ORPHA:347
Holoprosencephaly 7
Hypoplasia of the premaxilla, Panhypopituitarism, Depressed nasal tip, Bilateral cleft lip and pa... OMIM:610828
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Hyperte... OMIM:618913
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... OMIM:132900
Postaxial Acrofacial Dysostosis
Cleft upper lip, Supernumerary nipple, Malar flattening, Micropenis, Micrognathia, Abnormality of... OMIM:263750
Tempi Syndrome
Hemangioma, Transudative pleural effusion, Ascites ORPHA:284227
Myhre Syndrome
Abnormal cardiac septum morphology, Precocious puberty, Skeletal muscle hypertrophy, Abnormal pen... ORPHA:2588
Pseudoxanthoma Elasticum
Mitral stenosis, Angina pectoris, Intermittent claudication, Stroke, Restrictive cardiomyopathy, ... OMIM:264800
Alkaptonuria
Nephrolithiasis, Aortic valve calcification, Aminoaciduria, Tendon rupture, Mitral valve calcific... ORPHA:56
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Atrioventricular canal defect, Micrognathia, Hypoplasia of the thymus, ... ORPHA:40366
Arterial Calcification, Generalized, Of Infancy, 1
Carotid artery calcification, Congestive heart failure, Generalized arterial calcification, Myoca... OMIM:208000
Mucopolysaccharidosis Type 2, Severe Form
Abnormal mitral valve morphology, Heparan sulfate excretion in urine, Heart murmur, Increased siz... ORPHA:217085
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Coronary artery calcification, Nephrocalcinosis, Hypertension, Congestive ... OMIM:614473
Opitz-Kaveggia Syndrome
Cleft upper lip, Multiple joint contractures, Wide anterior fontanel, Abnormal nasopharynx morpho... OMIM:305450
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Malar flattening, Micrognathia, Preauricular skin tag, Short nose, Hypoplas... ORPHA:79113
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Restrictive cardiomyopathy, Sudden cardiac death, Mu... ORPHA:758
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Hirsutism, Atrial septal defect, Pulmonic ... OMIM:619343
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft upper lip, Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Choanal atresia, Delayed pu... OMIM:147950
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal mitral valve morphology, Heparan sulfate excretion in urine, Heart murmur, Increased siz... ORPHA:217093
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Aminoaciduria, Stroke, Arrhythmia, Ventricular septal defect, Situs inversu... OMIM:249270
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Malar flattening, Abnormality of the urinary system, Abnormal r... OMIM:182290
Von Hippel-Lindau Disease
Stroke, Myocarditis, Myocardial infarction, Elevated circulating catecholamine level, Adrenal phe... ORPHA:892
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Micrognathia, Hypospadias, Absence of pubertal development, Camptodactyly, Bil... ORPHA:314679
Suleiman-El-Hattab Syndrome
Hirsutism, Thick eyebrow, Atrial septal defect, Microretrognathia, Frontal hirsutism, Preauricula... OMIM:618950
Polyarteritis Nodosa
Raynaud phenomenon, Abnormality of the kidney, Hypertension, Pericarditis, Cardiomyopathy ORPHA:767
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... ORPHA:189439
Congenital Toxoplasmosis
Ascites, Hepatomegaly ORPHA:858
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Osteoglosphonic Dysplasia
Micrognathia, Choanal atresia, Multiple unerupted teeth, Anteverted nares, Cryptorchidism ORPHA:2645
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Wide anterior fontanel, Hepatomegaly, Splenomegaly, Depressed nasal bridge, Congenital hypothyroi... OMIM:610199
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Hypogonadotropic hypogo... ORPHA:1135
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Nephritis, Decreased response to growth hormone stimulation test,... OMIM:203800
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Overhanging nasal tip, Complete atrioventricular canal defect, Hyp... OMIM:619142
8Q22.1 Microdeletion Syndrome
Sparse eyebrow, Sparse eyelashes, Depressed nasal ridge, Abnormality of the nares, Camptodactyly ... ORPHA:178303
22Q11.2 Deletion Syndrome
Tricuspid atresia, Cholelithiasis, Bulbous nose, Carious teeth, Ventricular septal defect, Gastro... ORPHA:567
Okur-Chung Neurodevelopmental Syndrome
Micrognathia, Synophrys, Anteverted nares, Thin upper lip vermilion, Highly arched eyebrow, Wide ... OMIM:617062
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Hematuria, Interna... ORPHA:69077
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Quadriceps muscle weakness, Reduced left ventricular ejection fraction, Limb mus... ORPHA:254892
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... OMIM:613834
Free Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Andersen Cardiodysrhythmic Periodic Paralysis
Bulbous nose, Prominent frontal sinuses, Persistence of primary teeth, Malar flattening, Short ma... OMIM:170390
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Prominent superficial veins, Insulin-resistant diabetes mellitus, Coronary artery a... OMIM:608600
Blepharocheilodontic Syndrome 1
Cleft upper lip, Sparse hair, Distichiasis, Choanal atresia, High anterior hairline OMIM:119580
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... ORPHA:85450
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Stress urinary incontinence, Cerebral ische... ORPHA:136
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Renal salt wasting OMIM:201910
Beare-Stevenson Cutis Gyrata Syndrome
Malar flattening, Depressed nasal bridge, Preauricular skin furrow, Choanal atresia, Choanal sten... OMIM:123790
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Nephrolithiasis, Choanal atresia, Abnormal heart morphology ORPHA:91412
Coach Syndrome 1
Hepatomegaly, Nephronophthisis, Splenomegaly, Unilateral renal agenesis, Renal cyst, Vascular dil... OMIM:216360
Myhre Syndrome
Generalized muscle hypertrophy, Atrial septal defect, Sparse hair, Aortic valve stenosis, Thick e... OMIM:139210
Pseudomyxoma Peritonei
Ascites ORPHA:26790
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Edema, Ascites, Pericardial effusion OMIM:608776
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Acute kidney injury, Proteinuria, Hypertension, Cardiomegaly OMIM:618886
Bardet-Biedl Syndrome 1
Hirsutism, Nephrogenic diabetes insipidus, Micropenis, Left ventricular hypertrophy, Abnormality ... OMIM:209900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse hair, Sparse eyebrow, Broad nasal tip, Depressed nasal tip, Carious teeth, Hypoplasia of t... OMIM:129900
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Small hypothenar e... OMIM:612562
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Astrocytoma, Calf muscle pseudohypertrophy... ORPHA:79086
Martsolf Syndrome 1
Low anterior hairline, Micropenis, Micrognathia, Broad nasal tip, Depressed nasal bridge, Hypogon... OMIM:212720
Axenfeld-Rieger Syndrome
Everted lower lip vermilion, Depressed nasal bridge, Hypospadias, Abnormality of the hypothalamus... ORPHA:782
Aneurysm-Osteoarthritis Syndrome
Abnormality of bladder morphology, Dental malocclusion, Malar flattening, Pulmonic stenosis, Left... ORPHA:284984
Klippel-Trénaunay Syndrome
Hepatomegaly, Hemangioma, Hydrops fetalis, Edema, Ascites ORPHA:90308
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Micrognathia, Thin vermilion border, Glandular hypospadia... ORPHA:1358
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Depressed nasal bridge, Lipomas of eyelids, Hamartoma, Hypoplasia of the maxilla,... OMIM:167730
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Hirsutism, Low anterior hairline, Thick eyebrow, Atrial septal defect, Bulbous nose, Retrognathia... OMIM:617061
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Hypertension, Myopathy ORPHA:363400
Rapp-Hodgkin Syndrome
Cleft upper lip, Progressive alopecia, Sparse hair, Depressed nasal bridge, Hypospadias, Narrow n... OMIM:129400
Gapo Syndrome
Eruption failure, Wide anterior fontanel, Hepatomegaly, Sparse hair, Sparse eyebrow, Sparse eyela... OMIM:230740
Meier-Gorlin Syndrome 7
Wide anterior fontanel, Atrial septal defect, Micropenis, Thin eyebrow, Hypospadias, Urethral str... OMIM:617063
Liddle Syndrome
Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension ORPHA:526
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Acrodysostosis
Depressed nasal ridge, Depressed nasal bridge, Delayed eruption of teeth, Short nose, Hypoplasia ... ORPHA:950
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Abnormal mitral valve morphology, Stroke, Pubertal developmental failure in fema... ORPHA:740
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Neuraminidase Deficiency
Facial edema, Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites OMIM:256550
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Familial Osteodysplasia, Anderson Type
Bulbous nose, Thick eyebrow, Abnormal midface morphology, Malar flattening, Failure of eruption o... ORPHA:2769
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Cryptorchidism, Choanal atresia OMIM:613970
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Oligosacchariduria, Thoracic aorti... ORPHA:365
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Sparse hair, Micropenis, Abnormal nasal morphology, Hypoplasia of the zygomatic b... OMIM:200110
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Aortic tortuosity, Subarachnoid hemorrhage, Dilatation of the sinus o... OMIM:613795
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Marfanoid-Progeroid-Lipodystrophy Syndrome
Retrognathia, Scapular winging, Narrow nose, Mitral valve prolapse, Aortic root aneurysm, Hyperte... OMIM:616914
Williams-Beuren Syndrome
Stroke, Broad nasal tip, Myxomatous mitral valve degeneration, Depressed nasal bridge, Ventricula... OMIM:194050
Marshall-Smith Syndrome
Generalized hirsutism, Retrognathia, Short nose, Choanal atresia, Anteverted nares ORPHA:561
Primary Lipodystrophy
Angina pectoris, Type II diabetes mellitus, Splenomegaly, Skeletal muscle hypertrophy, Type IV at... ORPHA:90970
Duane-Radial Ray Syndrome
Atrial septal defect, Renal agenesis, Pectoralis hypoplasia, Small thenar eminence, Facial palsy,... OMIM:607323
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Elevated urinary vanillylmandelic acid, Parathyroid adenoma, Elevate... OMIM:171400
Microphthalmia With Limb Anomalies
Cleft upper lip, Hypoplasia of the premaxilla, Abnormal eyebrow morphology, Thin vermilion border... ORPHA:1106
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency