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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Ascites, Neoplasm, Lymphedema ORPHA:1160
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Retrognathia, Cardiomyopathy, Hyperplasia... OMIM:300280
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal ridge, Abnormality of the urinary system, Anteverted nares, Ab... ORPHA:2412
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Microcephaly-Capillary Malformation Syndrome
Abnormal hair whorl, Hypoplasia of the maxilla, Vesicoureteral reflux, Patent foramen ovale, Vent... OMIM:614261
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Cardiomyopathy, Stroke, Left atrial enlargement, Left ventricu... OMIM:611556
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Choanal atresia, Preauricular skin tag, Bilateral ch... OMIM:608572
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Stroke-like episode, Ragged-red muscle fibers, Myopathy, Left ventricul... OMIM:540000
Fetal Parvovirus Syndrome
Ascites, Increased nuchal translucency, Hydrops fetalis ORPHA:295
Classic Multiminicore Myopathy
Muscular dystrophy, Microretrognathia, Right ventricular failure, Congestive heart failure, Muscl... ORPHA:324604
X-Linked Mandibulofacial Dysostosis
Hypoplasia of the zygomatic bone, Micrognathia, Prominent nasal bridge, Cryptorchidism, Abnormal ... ORPHA:1131
Potocki-Shaffer Syndrome
Broad nasal tip, Underdeveloped nasal alae, Depressed nasal tip, Micrognathia, Prominent nasal br... ORPHA:52022
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Flared nostrils, Dilated cardiomyopathy, Retrognathia, Premature graying of hair, Moyamoya phenom... ORPHA:280679
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Cutaneous melanoma, Anteverted nares, Prominence of the premaxilla, Narrow nasal... OMIM:137550
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Wide nasal bridge, Highly arched eyebrow, Alopecia, Carious teeth, Midface retrusion, Hypoplasia ... ORPHA:3253
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Abnormal heart morphology, Bulb... ORPHA:284169
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Hypoplasia of the zyg... ORPHA:1110
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, Elbow flexion contractu... OMIM:619040
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... OMIM:300845
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:619462
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Left ventricular hypertrophy, Abnormal renal corti... OMIM:616733
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Toluene Embryopathy
Hypoplasia of the zygomatic bone, Micrognathia, Cryptorchidism, Hydronephrosis, Thin vermilion bo... ORPHA:1920
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Cholelithiasis, Abnormality of the hairline, Prominent nose, Renal tubular dys... OMIM:614886
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Hypoplasia of the zygomatic bone, Thin upper lip vermilion, Hypogonadotropic hypogonadis... ORPHA:1295
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Type I diabetes mellitus, Arterial stenosis, Cerebral artery atherosclerosis, Abnorm... ORPHA:1192
X-Linked Hypohidrotic Ectodermal Dysplasia
Depressed nasal ridge, Type I diabetes mellitus, Delayed eruption of teeth, Everted upper lip ver... ORPHA:181
Lessel-Kubisch Syndrome
Sparse pubic hair, Renal hypoplasia, Premature graying of hair, Hypogonadism, Narrow nasal bridge... OMIM:618681
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Increased urine ... OMIM:619048
Chromosome 9P Deletion Syndrome
Wide nasal bridge, Highly arched eyebrow, Choanal atresia, Depressed nasal bridge, Midface retrus... OMIM:158170
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Sparse eyebrow, Hypoplasia ... ORPHA:560
Nager Syndrome
Unilateral renal agenesis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Non-midli... ORPHA:245
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Depressed nasal bridge, Choanal atresia, Midface retrusion, Hypoplasia of the zygomatic bone, Pre... ORPHA:1555
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Arthrogryposis multiplex congenita, Reduced renal c... OMIM:208085
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Cantu Syndrome
Wide nasal bridge, Depressed nasal bridge, Congenital hypertrophy of left ventricle, Thick lower ... OMIM:239850
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Depressed nasal bridge, Recurrent upper respiratory tract infections, Oligo... ORPHA:423461
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hyperca... ORPHA:251274
Cardiofaciocutaneous Syndrome
Cryptorchidism, Low posterior hairline, Atrial septal defect, Brittle hair, Sparse hair, Short no... ORPHA:1340
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Increased circulating prolactin concentration, Cardiomyopathy, Pituitary prola... OMIM:102200
Frontonasal Dysplasia 1
Wide nasal bridge, Bifid nasal tip, Joint contracture of the hand, Hypoplasia of the maxilla, Bro... OMIM:136760
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal cardiac septum mor... ORPHA:1200
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Supernumerary nipple, Abn... ORPHA:1812
Holoprosencephaly
Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Arrhythmia, Choanal a... ORPHA:2162
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Malar flattening, Atrial se... ORPHA:261295
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose ORPHA:2835
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hepatomegaly, Hydrops fetalis, Hemangiomatosis, Visceral angiomatosis ORPHA:2123
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Micrognathia, Brittle hair, Sparse hair, Choanal atresia, Alopecia,... ORPHA:2750
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Ventricular septal... OMIM:613870
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Micrognathia, Aplasia of the thymus, Atrial septal defect, Sparse hai... OMIM:620186
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Wide nasal bridge, High anterior hairline, Broad nasal tip, Thick nasal alae, Thin eyebrow, Narro... OMIM:618147
Prolidase Deficiency
Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Hypoplasia of the zygomatic bone, M... ORPHA:742
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Joubert Syndrome 35
Renal fibrosis, Highly arched eyebrow, Multicystic kidney dysplasia, Depressed nasal bridge, Recu... OMIM:618161
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Hajdu-Cheney Syndrome
Aortic valve stenosis, Micrognathia, Ventricular septal defect, Generalized hirsutism, Absent fro... ORPHA:955
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Preauricular skin tag, Hypoplasia of the maxilla, Alopecia, Hydroureter, Preau... OMIM:616367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular systolic dysfunction, Cryptorchidism, Left ventricular hyper... OMIM:613156
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... OMIM:610205
Alpha-Heavy Chain Disease
Ascites, Hepatomegaly, Splenomegaly, Lymphoma ORPHA:100025
Flat Face-Microstomia-Ear Anomaly Syndrome
Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Hypoplasia of the zygomatic bone, Under... ORPHA:1968
Cohen Syndrome
Preauricular skin tag, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Long eyelashe... ORPHA:193
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Ventricular sep... OMIM:613404
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Dilation of Virchow-Robin spaces, Transient ischemic attack, Stroke, Lacunar stroke, Hypertension OMIM:616779
Lowry-Maclean Syndrome
Choanal atresia, Hypoplasia of the maxilla, Retrognathia, Bilateral cryptorchidism, Atrioventricu... ORPHA:2409
Bamforth-Lazarus Syndrome
Choanal atresia, Retrognathia, Congenital hypothyroidism, Thyroid agenesis, Abnormal hair quantity ORPHA:1226
Acrofacial Dysostosis, Catania Type
Microretrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Coarse hair, Preauricular pit... ORPHA:1786
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Hepatomegaly, Esophageal neoplasm ORPHA:2198
Ovarian Fibroma
Ascites, Pleural effusion, Ovarian fibroma, Odontogenic keratocysts of the jaw, Basal cell carcinoma ORPHA:314473
Distal Duplication 18Q
Choanal atresia, Carious teeth, Camptodactyly of finger, Anteverted nares, Micrognathia, Prominen... ORPHA:1716
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Anteverted nares, Hypoplasia of the zygomatic bone, Wide nose ORPHA:3074
Fabry Disease
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... OMIM:301500
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Chylopericardium ORPHA:2414
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Wide nasal bridge, Hypoplasia of the zygomatic bone, Cryptorchidism, Low posterior hairline, Mand... ORPHA:1778
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Aortic root aneurysm, Urinary bladder wall hypertrophy, ... ORPHA:280633
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial... OMIM:613874
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d... OMIM:267010
Edinburgh Malformation Syndrome
Choanal atresia, Anteverted nares, Micrognathia, Hirsutism, Low posterior hairline, Generalized h... ORPHA:1895
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Micrognathia, Dilatation of the bladder, Ventricular septal defec... OMIM:265380
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Midface retrusion, Hypoplasia of the zygomatic bone, Ab... ORPHA:1798
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Hypertrophic car... ORPHA:99725
Skraban-Deardorff Syndrome
Depressed nasal bridge, Sparse lateral eyebrow, Hyperplasia of the maxilla, Thick upper lip vermi... OMIM:617616
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Johnson Neuroectodermal Syndrome
Sparse hair, Choanal atresia, Alopecia, Carious teeth, Anosmia, Tetralogy of Fallot, Bulbous nose... ORPHA:2316
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Internal hemor... ORPHA:335
Chromosome 13Q33-Q34 Deletion Syndrome
Wide nasal bridge, Penoscrotal transposition, Choanal atresia, Delayed eruption of teeth, Microgn... OMIM:619148
Preeclampsia/Eclampsia 1
Proteinuria, Hypertension OMIM:189800
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Neoplasm, Pleural effusion, Nonimmune hydrops fetalis, Po... ORPHA:1041
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Hypoplasia of the maxilla, Stage 5 chronic kidney disease, Renal insuffi... OMIM:166300
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, Abnorma... ORPHA:90065
Antley-Bixler Syndrome
Choanal atresia, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Anteverted nares, Abn... ORPHA:83
Tangier Disease
Distal amyotrophy, Atherosclerosis, Facial diplegia, Splenomegaly, Nail dystrophy, Coronary arter... OMIM:205400
Treacher-Collins Syndrome
Abnormal hair morphology, Micrognathia, Cryptorchidism, Absent eyelashes, Thyroid hypoplasia, Pat... ORPHA:861
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction, Diabetes mellitus, Premature coronary artery atherosclerosis OMIM:608320
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Abnormality of circulating cortisol level, Decreased circu... ORPHA:320
Weiss-Kruszka Syndrome
Highly arched eyebrow, Dextrotransposition of the great arteries, Anteverted nares, Preauricular ... OMIM:618619
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca... ORPHA:3208
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, Lef... OMIM:615355
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Anterior p... ORPHA:466791
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Hypertension ORPHA:2613
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Familial Median Cleft Of The Upper And Lower Lips
Abnormal mandible morphology, Cleft upper lip, Median cleft upper lip, Abnormal maxilla morpholog... ORPHA:401942
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Hypertension, Left atrial enlargement... OMIM:620734
Williams Syndrome
Carious teeth, Micrognathia, Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolap... ORPHA:904
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Hypoplastic nasal bridge, Dilatation of the renal pelvis, Retrognathia, Left ventricular hypertro... OMIM:620510
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Bifid nasal tip, Underdeveloped nasal alae, Thin upper lip ve... ORPHA:521308
Cutis Laxa, Autosomal Recessive, Type Ic
Wide nasal bridge, Morgagni diaphragmatic hernia, Multiple bladder diverticula, Peripheral pulmon... OMIM:613177
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hepatomegaly, Hydrops fetalis OMIM:619433
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy
Wide nasal bridge, Synophrys, Retrognathia, Low anterior hairline OMIM:619844
Malan Syndrome
Midface retrusion, Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Evert... OMIM:614753
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:613944
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Malignant Peritoneal Mesothelioma
Ascites, Neoplasm, Pedal edema ORPHA:168811
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Delayed puberty, Nephrogenic diabe... ORPHA:3145
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Hypoplasia of the zygomatic bone, Tricuspid regurgitation, Micrognathia, Vesicoureteral reflux, V... OMIM:620663
Hepatic Veno-Occlusive Disease
Ascites, Hepatomegaly ORPHA:890
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short columella, Intraven... OMIM:613603
Splenoportal Vascular Anomalies
Ascites, Splenomegaly OMIM:271500
Nestor-Guillermo Progeria Syndrome
Micrognathia, Mitral regurgitation, Sparse eyelashes, Right atrial enlargement, Alopecia, Sparse ... OMIM:614008
Adams-Oliver Syndrome 5
Dystrophic toenail, Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right at... OMIM:616028
Focal Segmental Glomerulosclerosis 1
Ascites, Pleural effusion, Edema OMIM:603278
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectional ventricula... ORPHA:37553
Marshall-Smith Syndrome
Cryptorchidism, Prominence of the premaxilla, Ventricular septal defect, Premature ventricular co... OMIM:602535
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Rere-Related Neurodevelopmental Syndrome
Choanal atresia, Abnormal heart morphology, Anteverted nares, Micrognathia, Vesicoureteral reflux... ORPHA:494344
Trimethylaminuria
Tachycardia, Trimethylaminuria, Hypertension, Splenomegaly OMIM:602079
Aapoaiv Amyloidosis
Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Hypertrophic card... ORPHA:439232
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites OMIM:174050
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Hepatomeg... OMIM:121300
Ablepharon Macrostomia Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Fine hair, C... ORPHA:920
Recon Progeroid Syndrome
Skeletal muscle atrophy, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Hir... OMIM:620370
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Bifid nasal tip, Renal hypoplasia, Broad nasal tip, Secundum atrial septal defect, Retrognathia, ... OMIM:619758
Bronchopulmonary Dysplasia
Right ventricular failure, Right ventricular hypertrophy ORPHA:70589
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy OMIM:618228
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Ante... ORPHA:2863
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... OMIM:253700
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Midface retrusion, Abnormal heart morphology, Prominent nasal bridge, Cryptorc... ORPHA:401935
Congenital Disorder Of Glycosylation, Type Iig
Wide nasal bridge, Midface retrusion, Anteverted nares, Micrognathia, Renal insufficiency, Crypto... OMIM:611209
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Aortic regurgitation, Wide nasal bridge, Thickened aortic valve cusp, Neph... OMIM:619698
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar... ORPHA:3287
Coronary Artery Disease, Autosomal Dominant 2
Premature coronary artery atherosclerosis, Type II diabetes mellitus, Hypertension, Sudden cardia... OMIM:610947
Cleidocranial Dysplasia
Depressed nasal bridge, Carious teeth, Midface retrusion, Hypoplasia of the zygomatic bone, Delay... ORPHA:1452
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Hypoplasia of the maxilla, Bilateral choanal atresia, Cleft upper lip, Sparse ... OMIM:106260
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Aortic root aneurysm, Abnormal heart valve morphology, Tricuspid regurgitat... ORPHA:230851
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Distal 17P13.1 Microdeletion Syndrome
Prominent nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia ORPHA:319171
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly ORPHA:1046
Gapo Syndrome
Choanal atresia, Mandibular prognathia, Alopecia, Sparse eyebrow, Delayed eruption of teeth, Depr... ORPHA:2067
Fg Syndrome Type 1
Small pituitary gland, Choanal atresia, Prominent nose, Micrognathia, Frontal upsweep of hair, Ma... ORPHA:93932
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy OMIM:614458
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Retrognathia, Abnormal heart valve morphology, Facial... ORPHA:169186
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Simpson-Golabi-Behmel Syndrome, Type 1
Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect,... OMIM:312870
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Secondary Intestinal Lymphangiectasia
Anasarca, Lymphoma, Lymphedema, Pleural effusion, B-cell lymphoma, Chylous ascites, Intestinal ly... ORPHA:90363
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Intellectual Disability, Wolff Type
Wide nasal bridge, Microretrognathia, Camptodactyly of finger, Thick lower lip vermilion, Bulbous... ORPHA:3080
Kagami-Ogata Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Frontal hirsutism, Retrognathia, Anteverted na... OMIM:608149
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney... OMIM:619487
Alagille Syndrome
Peripheral pulmonary artery stenosis, Abnormality of the ureter, Micrognathia, Cryptorchidism, Ve... ORPHA:52
Pfeiffer Syndrome
Wide nasal bridge, Mandibular prognathia, Hypoplasia of the zygomatic bone ORPHA:710
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia OMIM:614654
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Maxillozygomatic hypoplasia, Malar flattening, Delayed eruption of teeth ORPHA:2972
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Mitral ... ORPHA:730
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Choanal atresia, Preauricular skin tag, Renal agenesis, Retrognathia, ... OMIM:619227
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Generalized hir... OMIM:612949
Werner Syndrome
Premature graying of hair, Neoplasm of the oral cavity, White forelock, Type II diabetes mellitus... ORPHA:902
Cirrhotic Cardiomyopathy
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... ORPHA:57777
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology, Arrhythmia, Hypertension ORPHA:3222
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Midface retrusion, Bulbous nose, Thick eyebrow, Thin upper lip vermili... OMIM:618737
Severe Oculo-Renal-Cerebellar Syndrome
Hypoplasia of the zygomatic bone, Malar prominence, Renal insufficiency, Proteinuria, Glomerulopa... ORPHA:2715
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Left ventricular noncompaction, Tricuspid regurgitation, Left ... OMIM:619167
Vici Syndrome
Depressed nasal bridge, Dilated cardiomyopathy, Everted upper lip vermilion, Cardiomyopathy, Cong... OMIM:242840
3Mc Syndrome 2
Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the musculature, Cleft upper lip, Horsesh... OMIM:265050
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... ORPHA:2260
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... OMIM:613237
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Desmoplastic Small Round Cell Tumor
Ascites, Testicular neoplasm, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, ... ORPHA:83469
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Congenit... OMIM:615524
Chromosome 15Q26-Qter Deletion Syndrome
Wide nasal bridge, Micrognathia, Cryptorchidism, Abnormal cardiac septum morphology, Micropenis, ... OMIM:612626
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Coronary artery atherosclerosis, Polycystic ovaries, Hepatomegaly, Hypertension... ORPHA:79084
Mogs-Cdg
Alopecia, Retrognathia, Fair hair, Hepatosplenomegaly, Long eyelashes, Hirsutism, Cardiomegaly, L... ORPHA:79330
Joubert Syndrome 14
Highly arched eyebrow, Prominent nasal bridge, Tented upper lip vermilion, Malar flattening, Vent... OMIM:614424
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Sweeney-Cox Syndrome
Wide nasal bridge, Choanal atresia, Broad nasal tip, Midface retrusion, Underdeveloped nasal alae... OMIM:617746
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Narrow nasal bridg... OMIM:300967
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension OMIM:607832
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Trichorhinophalangeal Syndrome, Type Ii
Rib exostoses, Carious teeth, Hyperplasia of the maxilla, Micrognathia, Bicuspid aortic valve, Os... OMIM:150230
Developmental And Epileptic Encephalopathy 111
Hypoplastic left heart, Midface retrusion, Sinus tachycardia, Biventricular hypertrophy, Long eye... OMIM:620504
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Midface retrusion, Shor... ORPHA:1248
Methimazole Embryofetopathy
Choanal atresia, Abnormality of the thyroid gland, Abnormal aortic morphology, Ventricular septal... ORPHA:1923
Microform Holoprosencephaly
Choanal atresia, Renal agenesis, Tetralogy of Fallot, Panhypopituitarism, Narrow nasal bridge, An... ORPHA:280200
Cranioectodermal Dysplasia 2
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Midface retrusion, Retrognathia, Micro... OMIM:613610
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syn... OMIM:105200
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adr... ORPHA:369929
Fabry Disease
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Hypertrophic cardio... ORPHA:324
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Sialidosis Type 2
Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pedal edema ORPHA:87876
Aarskog-Scott Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, High anterior hairline, Delayed eruption of teeth, ... ORPHA:915
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Broad eyebrow, Hypoplasia of the maxilla, Synophrys OMIM:618302
Mulibrey Nanism
Wide nasal bridge, Depressed nasal bridge, Dental malocclusion, Congestive heart failure, Wide no... OMIM:253250
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia, Hypotension, Elevated c... ORPHA:439822
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Preauricular skin tag, Midface retrusion, Anteverted nares, Micrognathia, Malar ... OMIM:610536
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Microcephaly 10, Primary, Autosomal Recessive
Choanal atresia, Micrognathia, Arthrogryposis multiplex congenita, Prominent nasal bridge OMIM:615095
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Broad nasal tip, Retrognathi... OMIM:620157
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Distal Xq28 Microduplication Syndrome
Epistaxis, Hypoplasia of the maxilla, Broad nasal tip, Recurrent upper respiratory tract infectio... ORPHA:293939
Woods Syndrome
Wide nasal bridge, Supernumerary nipple, Ventricular septal defect, Frontal hirsutism, Low hangin... OMIM:615236
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hypertension, Glomeru... ORPHA:84090
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Congestive heart failure, Type II diabetes mellitus, H... OMIM:615703
Pallister-Hall Syndrome
Natal tooth, Cryptorchidism, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus,... OMIM:146510
Charge Syndrome
Cryptorchidism, Patent ductus arteriosus, Choanal atresia, Tetralogy of Fallot, Aortic arch aneur... ORPHA:138
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Thin upper lip vermilion, P... ORPHA:3304
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge ORPHA:93262
Fontaine Progeroid Syndrome
Micrognathia, Cryptorchidism, Low posterior hairline, Bicuspid aortic valve, Atrial septal defect... OMIM:612289
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Pulmon... ORPHA:98915
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Abnormality of the hypothalamus-pituitary axis, Micrognathia, Crypt... ORPHA:2166
Filippi Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Hypertrichosis, Serrated incisors, Cryptorchidism, ... OMIM:272440
Ovarian Fibrothecoma
Ascites, Pleural effusion, Diffuse leiomyomatosis, Ovarian fibroma, Fibrosarcoma ORPHA:314478
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Cardiomyopathy, Camptodactyly of finger, Abnormal hear... ORPHA:93473
Cutis Laxa, Autosomal Recessive, Type Ib
Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Congenital diaphragmatic her... OMIM:614437
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Hypertrichosis, Bulbous nose, Promine... OMIM:300968
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Cleft ala nasi, Convex nasal ridge, Non-midline cle... ORPHA:2007
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Depressed nasal bridge, Anteverted nares, Cardiomegaly, Pulmonary arterial hypertension, Vascular... OMIM:613320
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Nasal polyposis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal peri... ORPHA:183
Chromosome 3Pter-P25 Deletion Syndrome
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Broad nasal tip, Retrognathia, ... OMIM:613792
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Autism Spectrum Disorder Due To Auts2 Deficiency
Wide nasal bridge, Highly arched eyebrow, Joint contracture of the hand, Congenital contracture, ... ORPHA:352490
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Elevated circulating parath... OMIM:122860
Treacher Collins Syndrome 3
Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone OMIM:248390
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Highly arched eyebrow, Wide nasal bridge, Midface retrusion, Retrognathia,... OMIM:243310
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Wide nasal base, Broad nasal tip, Broad columella, Anteverted nares, Thin upper lip vermilion, Pa... OMIM:617763
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Wide nasal bridge, Highly arched eyebrow, Ketonuria, Bilateral superior vena cava, Midface retrus... OMIM:220111
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Sparse pubic hair, Hypoplasia of the maxilla, Pelvic girdle muscle atrophy, Elevated circulating ... ORPHA:3044
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... ORPHA:1529
Congenital Disorder Of Glycosylation, Type Iir
Ascites, Hepatomegaly OMIM:301045
Intellectual Developmental Disorder, X-Linked 104
Wide nasal bridge, Bifid nasal tip, Frontal upsweep of hair, Retrognathia OMIM:300983
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Sneddon Syndrome
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension OMIM:182410
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Aortic root aneurysm, Gener... OMIM:208050
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thin vermilion border, Thick eyebrow, Hypoplasia of the zygomatic bone, Fine hair OMIM:614800
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Narrow nose, Narrow nasal bridge, Micrognathia, Prominent nasal bridge... OMIM:309520
Carpenter Syndrome 1
Precocious puberty, Depressed nasal bridge, Joint contracture of the hand, Hypoplasia of the maxi... OMIM:201000
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hypospadias, Hypoplasia of the maxilla, Abnormal heart morphology, Cryptorchid... OMIM:601499
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Highly arched eyebrow, Choanal atresia, Underdeveloped nasal alae, Camptoda... ORPHA:261330
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Highly arched eyebrow, Hypoplasia of the maxilla, Wide nasal bridge, Bulbou... OMIM:609460
Cornelia De Lange Syndrome 1
Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Low pos... OMIM:122470
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Prominent nasal bridge, Atrial ... ORPHA:776
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Low anterior hairline OMIM:613153
Hypomandibular Faciocranial Dysostosis
Midface retrusion, Anteverted nares, Choanal stenosis, Atrial septal defect, Maxillozygomatic hyp... ORPHA:1790
Monosomy 18P
Wide nasal bridge, Alopecia, Carious teeth, Micrognathia, Low posterior hairline, Hypothyroidism,... ORPHA:1598
German Syndrome
Wide nasal bridge, Depressed nasal bridge, Midface retrusion, Camptodactyly of finger, Tetralogy ... ORPHA:2077
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Alopecia universalis, Pulmonary carcinoid tumor, ... ORPHA:363618
Lessel-Kreienkamp Syndrome
Wide nasal bridge, Dental malocclusion, Patent foramen ovale, Thin upper lip vermilion, Bicuspid ... OMIM:619149
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Depressed nasal bridge, Microretrognathia, Aortic root aneurysm, Midface retrusion, Elbow flexion... OMIM:245600
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Broad nasal t... ORPHA:1830
Cardiocranial Syndrome, Pfeiffer Type
Wide nasal bridge, Abnormal hair whorl, Small hypothenar eminence, Plantar flexion contracture, C... ORPHA:2872
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Choanal atresia, Depressed nasal bridge, Midface retrusion, Malar flattening, Abnormal renal morp... OMIM:207410
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Calf muscle hypertrophy, Abnormal circulating hormone conce... ORPHA:280356
Lymphoproliferative Syndrome 2
Lymphoma, Ascites, Hepatosplenomegaly, Splenomegaly, Hodgkin lymphoma, Hepatomegaly, Lymphoprolif... OMIM:615122
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegal... OMIM:617713
Zimmermann-Laband Syndrome 3
Wide nasal bridge, Facial hypertrichosis, Broad nasal tip, Hypertrichosis, Thick lower lip vermil... OMIM:618658
Treacher Collins Syndrome 2
Choanal atresia, Microretrognathia, Hypoplasia of the zygomatic bone, Retrognathia, Preauricular ... OMIM:613717
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal stenosis, Atrial septal defect... OMIM:241310
Frontofacionasal Dysplasia
Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Midface retrusio... ORPHA:1791
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Wide nasal bridge, Depressed nasal bridge, Coarse hair, Eleva... OMIM:242900
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Highly arched eyebrow, Dilated cardiomyopathy, Broad nasal tip, Type II dia... ORPHA:401923
Tonne-Kalscheuer Syndrome
Wide nasal bridge, Fine hair, Abnormal heart morphology, Decreased testicular size, Prominent nos... OMIM:300978
Noonan Syndrome 10
Sparse eyebrow, Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular ... OMIM:616564
Craniofacioskeletal Syndrome
Interrupted aortic arch, Choanal atresia, Micrognathia, Absent gallbladder, Cryptorchidism, Ventr... OMIM:300712
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis,... ORPHA:79083
Sneddon Syndrome
Nephropathy, Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Duplicated... OMIM:604292
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Micrognathia, Vesicoureteral reflux, Congenital diaphragmatic hernia, Abnorm... ORPHA:1166
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Mitral valve prolapse, Short nose ORPHA:90653
Perlman Syndrome
Wide nasal bridge, Retrognathia, Abnormal pancreas morphology, Capillary hemangioma, Anteverted n... ORPHA:2849
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Type I diabetes me... ORPHA:275555
Acro-Renal-Mandibular Syndrome
Hypoplasia of the zygomatic bone, Micrognathia, Congenital diaphragmatic hernia, Abnormality of t... ORPHA:958
Zechi-Ceide Syndrome
Wide nasal bridge, Midface retrusion, Abnormal heart morphology, Postauricular skin tag, Atrial s... ORPHA:217017
Split-Hand/Foot Malformation 3
Renal hypoplasia, Microretrognathia, Hypoplasia of the maxilla, Nail dystrophy, Camptodactyly OMIM:246560
Melorheostosis With Osteopoikilosis
Multiple lipomas, Hypertension ORPHA:1879
Distal Deletion 12Q
Micrognathia, Ectopic kidney, Polycystic kidney dysplasia, Patent ductus arteriosus, Congenital h... ORPHA:96149
Diamond-Blackfan Anemia 10
Choanal atresia, Morgagni diaphragmatic hernia, Micrognathia, Congenital diaphragmatic hernia, Re... OMIM:613309
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, Decreased testicular size, Prominent nasal br... ORPHA:85279
Bladder Cancer
Transitional cell carcinoma of the bladder, Bladder neoplasm OMIM:109800
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Choanal atresia, Retrognathia, Prominent nasal bridge, Ventricular septal defect, Patent ductus a... ORPHA:52055
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Hypertrichosis, Mitral valve prolapse, Amelogenesis imperfecta, Mandib... OMIM:601216
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Depressed nasal bridge, Sparse eyebrow, Underdeveloped nasal ... OMIM:619127
Choanal Atresia And Lymphedema
Pericardial effusion, Choanal atresia OMIM:613611
Portal Hypertension, Noncirrhotic, 2
Ascites, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma OMIM:619463
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Hypoplasia of the maxilla, Convex nasal ridge OMIM:156510
Seckel Syndrome 10
Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Microretrognathia, Hyper... OMIM:617253
Intellectual Developmental Disorder, Autosomal Recessive 69
Facial hypotonia, Hyperplasia of the maxilla OMIM:618383
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, Dicarboxylic aciduria, Congestive h... OMIM:619355
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul... ORPHA:99094
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Adrenal hyperplas... ORPHA:95699
Apert Syndrome
Choanal atresia, Hypoplasia of the maxilla, Mandibular prognathia, Depressed nasal bridge, Delaye... ORPHA:87
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Wide nasal bridge, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atri... ORPHA:251071
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Midface retrusion, Convex nasal ridge ORPHA:207
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Choanal atresia, Retrognathia, Bilateral cryptorchidism, Prominent nasal bridge, Ventricular sept... OMIM:300472
Pentasomy X
Wide nasal bridge, Camptodactyly of finger, Micrognathia, Delayed puberty, Abnormal cardiac septu... ORPHA:11
Combined Oxidative Phosphorylation Deficiency 10
Ascites, Pericardial effusion, Oligohydramnios, Pleural effusion OMIM:614702
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Skeletal muscle atrophy, Retrognathia, Micrognathia, Cryptorchidism, Camptodac... OMIM:618393
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension ORPHA:3156
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Neoplasm of the skin, Insulin-resistant diabet... ORPHA:79474
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Choanal atresia, Underdeveloped nasal alae, Capillary hemangioma, Overha... ORPHA:163979
Intellectual Developmental Disorder, Autosomal Recessive 45
Wide nasal bridge, Highly arched eyebrow, Retrognathia, Bulbous nose, Anteverted nares, Thick eye... OMIM:615979
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Narrow nose, Thin vermilion border, Congenital diaphragmatic... OMIM:617602
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Broad nasal tip, Midface retrusion ORPHA:2776
Kleefstra Syndrome
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Arrhythmi... ORPHA:261494
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Depressed nasal bridge, Wide nasal bridge, Microretrognathia, Vascular dil... OMIM:220220
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis of the externa... OMIM:619472
Orofaciodigital Syndrome I
Sparse hair, Wide nasal bridge, Alopecia, Carious teeth, Microretrognathia, Dry hair, Underdevelo... OMIM:311200
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis ORPHA:69735
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Underdeveloped nasal alae, Preauricular pit, Micrognathia, Abnormal aortic morpho... ORPHA:2516
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Wide nasal bridge, Microretrognathia, Hypertrophic cardiomyopathy, Anteverted nares, Cryptorchidi... OMIM:614052
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Hypoplasia of the maxilla, Microretrognathia, Tricuspid regurgitation, Ant... ORPHA:228396
Infantile Sialic Acid Storage Disease
Hepatomegaly, Hydrops fetalis, Splenomegaly, Ascites OMIM:269920
Braddock-Carey Syndrome 1
Wide nasal bridge, Multicystic kidney dysplasia, Anteverted nares, Thick vermilion border, Aortic... OMIM:619980
8Q12 Microduplication Syndrome
Wide nasal bridge, Highly arched eyebrow, Vesicoureteral reflux, Ventricular septal defect, Atria... ORPHA:228399
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Lower limb muscle weakness, Tricuspid regurgitation, Congestive heart failure, Mi... ORPHA:746
Verheij Syndrome
Wide nasal bridge, Renal hypoplasia, Broad nasal tip, Renal agenesis, Retrognathia, Anteverted na... OMIM:615583
Metaphyseal Chondrodysplasia, Jansen Type
Choanal atresia, Nephrocalcinosis, Micrognathia, Hyperphosphaturia, Knee flexion contracture, Hip... OMIM:156400
X-Linked Intellectual Disability, Porteous Type
Bulbous nose, Hypoplasia of the maxilla, Mandibular prognathia, Frontal balding ORPHA:93945
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... ORPHA:1349
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Depressed nasal bridge, Dry hai... ORPHA:576
Suleiman-El-Hattab Syndrome
Wide nasal bridge, Highly arched eyebrow, Preauricular skin tag, Microretrognathia, Thick lower l... OMIM:618950
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cryptorchidism, Anterior pituitary hypoplasia, Short nose, Choanal ... OMIM:610829
Beare-Stevenson Cutis Gyrata Syndrome
Choanal atresia, Hypospadias, Depressed nasal bridge, Natal tooth, Midface retrusion, Preauricula... OMIM:123790
Familial Atrial Myxoma
Ascites, Cardiac myxoma, Pedal edema ORPHA:615
Postaxial Acrofacial Dysostosis
Choanal atresia, Cleft upper lip, Supernumerary nipple, Micrognathia, Malar flattening, Cryptorch... OMIM:263750
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Duplicated... OMIM:129900
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Type I diabetes mellitus, Mitral valve prolapse, Ventricular septal defec... ORPHA:371428
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Micrognathia, Cryptorchidism, Ventri... ORPHA:2256
Cerebrofacioarticular Syndrome
Wide nasal bridge, Renal hypoplasia, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosi... ORPHA:314679
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Midface retrusion, Atrioventricular canal defect, Complete atrioventri... OMIM:619142
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Midface retrusion, Recurrent urinary tract infections, Elevated circulating creatinine concentrat... OMIM:613095
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Midface retrusion, Aplasia/Hypoplasia involving the nose, Abnormality of the sen... ORPHA:1135
Adrenocortical Carcinoma
Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo... ORPHA:1501
Mosaic Trisomy 14
Wide nasal bridge, Camptodactyly of finger, Anteverted nares, Micrognathia, Prominent nasal bridg... ORPHA:1703
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Fac... OMIM:300266
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Choanal atresia, Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concent... OMIM:610199
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Wide nose, Peripheral arterial ... ORPHA:217085
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Decreased response... OMIM:216550
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Mitral regurgitation, Mitral valve prolapse, Cerebral berry aneurysm, Polycy... OMIM:173900
Tempi Syndrome
Ascites, Hemangioma, Transudative pleural effusion ORPHA:284227
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hyp... ORPHA:567
Meier-Gorlin Syndrome 7
Choanal atresia, Second degree atrioventricular block, Breast aplasia, Thin eyebrow, Vesicoureter... OMIM:617063
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Moyamoya phenomenon, Stroke, Raynaud phenomenon, Hypertension ORPHA:401945
Osteoglosphonic Dysplasia
Choanal atresia, Anteverted nares, Micrognathia, Cryptorchidism, Multiple unerupted teeth ORPHA:2645
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Wide nose, Peripheral arterial ... ORPHA:217093
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Abnormality of the kidney, Nephrotic syndrome, Multiple myeloma, Vasc... ORPHA:91139
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Facial hypotonia, Heart murmur, Shortened PR int... ORPHA:308552
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Skeletal muscle atrophy, Limb muscle weakness, Faci... OMIM:218000
Alport Syndrome
Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c... ORPHA:63
Mandibulofacial Dysostosis-Microcephaly Syndrome
Preauricular skin tag, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal d... ORPHA:79113
Opitz-Kaveggia Syndrome
Choanal atresia, Joint contracture of the hand, Fine hair, Cleft upper lip, Abnormal heart morpho... OMIM:305450
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Cleft upper lip, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed... OMIM:147950
Diamond-Blackfan Anemia 7
Choanal atresia, Small hypothenar eminence, Secundum atrial septal defect, Horseshoe kidney, Tetr... OMIM:612562
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Natal tooth, Aortic root aneury... OMIM:145420
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Congenital Toxoplasmosis
Hepatomegaly, Ascites ORPHA:858
Blepharocheilodontic Syndrome 1
Choanal atresia, High anterior hairline, Cleft upper lip, Distichiasis, Sparse hair OMIM:119580
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Sparse eyebrow, Depressed na... ORPHA:178303
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Renal artery stenosis, Carot... OMIM:208000
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Nephrocalcinosis, Restrictive cardiomyopathy, Abnormal cerebral vasc... ORPHA:758
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Preauricular skin tag, Third degree atrioventricular block, Atrioventri... ORPHA:40366
Rapp-Hodgkin Syndrome
Sparse hair, Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Sparse eyebrow, De... OMIM:129400
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Arrhythmia, Pancreatic islet cell adenoma, Elevated circula... ORPHA:892
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Stress ... ORPHA:136
Alazami Syndrome
Wide nasal bridge, Depressed nasal bridge, Malar flattening, Thick vermilion border, Retractile t... OMIM:615071
Frasier Syndrome
Focal segmental glomerulosclerosis, Decreased serum estradiol, Streak ovary, Renal insufficiency,... ORPHA:347
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Lung adenocarcinoma, Proteinuria, Tubu... OMIM:618913
Myhre Syndrome
Abnormal penis morphology, Precocious puberty, Hypoplasia of the maxilla, Mandibular prognathia, ... ORPHA:2588
Intellectual Developmental Disorder, Autosomal Dominant 23
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Low ante... OMIM:615761
Marcus-Gunn Syndrome
Abnormal heart morphology, Choanal atresia, Abnormality of the sense of smell, Nephrolithiasis ORPHA:91412
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Choanal atresia, Hypothyroidism, Cryptorchidism OMIM:613970
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Highly arched eyebrow, Wide nasal bridge, Depressed nasal bridge, Hypertr... OMIM:618316
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta, Long eyelashes, Hypertension OMIM:616069
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Highly arched eyebrow, Joint contracture of the hand, Hypoplasia of the maxill... OMIM:608156
Glycogen Storage Disease Iv
Ascites, Hepatosplenomegaly, Polyhydramnios, Hydrops fetalis, Edema OMIM:232500
Duane-Radial Ray Syndrome
Choanal atresia, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Pectoralis hypoplasia, Cross... OMIM:607323
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Cryptorchidism, Ventricular septal defect,... OMIM:249270
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Anteverted nares, Macroglossia, Short nose ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Midface retrusion, Retrognathia, Bulbous nose, Microgn... OMIM:617061
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ventricular septal defect, Hematuria, Overriding aorta, Pul... OMIM:617021
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Arterial dissection, Dental malocclusion, Retrognathia, Aortic dissection, ... ORPHA:284984
Martsolf Syndrome 1
Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Cardiomyopathy, Congestive he... OMIM:212720
Marshall-Smith Syndrome
Choanal atresia, Retrognathia, Anteverted nares, Generalized hirsutism, Short nose ORPHA:561
Developmental And Epileptic Encephalopathy 66
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Cryptorchidism, Ventricula... OMIM:618067
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Myopathy, Tubulointe... ORPHA:85450
Axenfeld-Rieger Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Midface retrusion, Everted ... ORPHA:782
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Alopecia totalis, Mic... ORPHA:740
Free Sialic Acid Storage Disease
Hepatomegaly, Hydrops fetalis, Splenomegaly, Ascites ORPHA:834
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Sparse eyebrow, Lipomas of ... OMIM:167730
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Microphthalmia, Syndromic 9
Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Atrial ... OMIM:601186
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather... ORPHA:494424
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Anteverted nar... OMIM:216360
Polyarteritis Nodosa
Cardiomyopathy, Raynaud phenomenon, Abnormality of the kidney, Hypertension, Pericarditis ORPHA:767
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Hirsutism, Left ventricular hy... OMIM:209900
Autosomal Dominant Progressive External Ophthalmoplegia
Limb muscle weakness, Myopathy, Arrhythmia, Hypomimic face, Quadriceps muscle weakness, Goiter, P... ORPHA:254892
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Midface retrusion, Uni... OMIM:610828
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Prominent U wave, Prolonged QTc interval, Bulbous nose, Persistence of... OMIM:170390
Intellectual Developmental Disorder, Autosomal Recessive 79
Wide nasal bridge, Broad nasal tip, Thin upper lip vermilion, Ventricular septal defect OMIM:620393
Pseudomyxoma Peritonei
Ascites ORPHA:26790
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Anteverted nares, Micrognathia,... OMIM:615834
Myhre Syndrome
Aortic valve stenosis, Hypoplasia of the maxilla, Mandibular prognathia, Midface retrusion, Fine ... OMIM:139210
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conce... OMIM:201910
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Internal hemorrhage, Renal neoplasm, Sarcoma, Hypertension, Neo... ORPHA:69077
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Cryptorchid... OMIM:613834
Smith-Magenis Syndrome
Wide nasal bridge, Abnormality of the urinary system, Midface retrusion, Everted upper lip vermil... OMIM:182290
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Coronary artery atherosclerosis, Prominent superficial veins... OMIM:608600
Alkaptonuria
Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a... ORPHA:56
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertension ORPHA:71529
Zaki Syndrome
Wide nasal bridge, Preauricular skin tag, Sparse eyebrow, Renal agenesis, Sparse lateral eyebrow,... OMIM:619648
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Wide nasal bridge, Depressed nasal bridge, Preauri... ORPHA:7
Acquired Generalized Lipodystrophy
Cardiomyopathy, Insulin-resistant diabetes mellitus, Lymphoma, Hyperinsulinemia, Abnormal cardiov... ORPHA:79086
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Sparse pubic hair, Depressed nasal bridge, Fine hair... OMIM:181270
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Elevated urinary dopamine level, Elevated urinary norepinephrine ... ORPHA:94080
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Neonatal insulin-dependent diabetes mellitus, Hypoplasia of th... ORPHA:556955
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Wide nasal bridge, Retrognathia, Cryptorchidism, Thin upper lip vermilion, Everted lower lip verm... OMIM:619595
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Myopathy, Generalized hirsutism, Hepatomegaly, Hypertension ORPHA:363400
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dry hair, Myofiber disarray, Mitral regurgitation, Ventricular septal defect, Woolly scalp hair, ... OMIM:620519
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly, Cerebral hemorrhage, Hypertension OMIM:618886
Rafiq Syndrome
Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Bulbous nose, P... OMIM:614202
Keipert Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi... ORPHA:2662
Microphthalmia With Limb Anomalies