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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
Ascites, Neoplasm, Lymphedema ORPHA:1160
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Anteverted nares, Patent ductus arteriosus, Depressed nasal ridge, ... ORPHA:2412
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Wide nose, Left atrial enlargement, Cardiomegaly, Prominent nose, Synoph... OMIM:300280
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... ORPHA:860
Microcephaly-Capillary Malformation Syndrome
Wide nose, Ventricular septal defect, Hypoplasia of the maxilla, Abnormal hair whorl, Vesicourete... OMIM:614261
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... OMIM:611556
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... OMIM:540000
Classic Multiminicore Myopathy
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... ORPHA:324604
Fetal Parvovirus Syndrome
Increased nuchal translucency, Ascites, Hydrops fetalis ORPHA:295
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Cleft ... OMIM:608572
Potocki-Shaffer Syndrome
Prominent nasal bridge, Nephroblastoma, Broad nasal tip, Underdeveloped nasal alae, Micrognathia,... ORPHA:52022
X-Linked Mandibulofacial Dysostosis
Prominent nasal bridge, Micrognathia, Cryptorchidism, Hypoplasia of the zygomatic bone, Pulmonic ... ORPHA:1131
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:280679
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Cleft upper lip, Carious teet... ORPHA:3253
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Myofibrillar Myopathy 10
Mandibular prognathia, Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltag... OMIM:619040
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... OMIM:300845
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Full cheeks,... OMIM:137550
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic a... ORPHA:1110
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Elevated circulating creatinine concentration, Hypertension, Abnormal renal ... OMIM:616733
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis OMIM:619462
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Depressed nasal bridge... ORPHA:284169
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Prominent nose, Wide anterior fontanel, Patent ductus arteriosus, W... OMIM:614886
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Hypoplasia of penis, Hypogonadotropic hypogonadism, Synophrys, Anosmia,... ORPHA:1295
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Toluene Embryopathy
Micrognathia, Cryptorchidism, Abnormal localization of kidney, Thin vermilion border, Hypoplasia ... ORPHA:1920
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Depressed nasal ridge, Hypertension, Ever... ORPHA:181
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Congestive heart failure,... OMIM:619048
Lessel-Kubisch Syndrome
Narrow nasal bridge, Renal insufficiency, Sparse pubic hair, Renal hypoplasia, Premature graying ... OMIM:618681
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Ne... ORPHA:1192
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Sparse eyelashes, Micrognathia, Hypoplasia of the maxil... ORPHA:560
Nager Syndrome
Sparse lower eyelashes, Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxilla, Abnor... ORPHA:245
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Micrognathia, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal ... OMIM:208085
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Chromosome 9P Deletion Syndrome
Thin upper lip vermilion, Fair hair, Ventricular septal defect, Anteverted nares, Depressed nasal... OMIM:158170
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteverted nares, Depressed nasal bridge, Choanal atresia, Preauricular skin furrow, Cryptorchidi... ORPHA:1555
Holoprosencephaly
Hypoplasia of penis, Congenital diaphragmatic hernia, Synophrys, Depressed nasal ridge, Panhypopi... ORPHA:2162
Cantu Syndrome
Bicuspid aortic valve, Anteverted nares, Depressed nasal bridge, Cardiomegaly, Pericardial effusi... OMIM:239850
Cardiofaciocutaneous Syndrome
Brittle hair, Sparse hair, Atrial septal defect, Dystrophic fingernails, Anteverted nares, Depres... ORPHA:1340
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Broad nasal tip, Hypoplasia of t... OMIM:136760
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bri... ORPHA:261295
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nip... ORPHA:1812
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II... ORPHA:225
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose ORPHA:2835
Orofaciodigital Syndrome Type 1
Brittle hair, Micrognathia, Coarse hair, Sparse hair, Multicystic kidney dysplasia, Alopecia, Abn... ORPHA:2750
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Polyhydramnios, Hemangiomatosis, Visceral angiomatosis, Hydrops fetalis, Ascites ORPHA:2123
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate... ORPHA:1200
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Prominent nasal bridge, Bulbous nose, Flexion contracture... OMIM:613870
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Micrognathia, Choanal stenosis, Atrial septal defect, Sparse hair, Hypothyroidism, Patent foramen... OMIM:620186
Prolidase Deficiency
Hepatomegaly, Recurrent cystitis, Depressed nasal bridge, Micrognathia, Carious teeth, Splenomega... ORPHA:742
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Hypertensio... OMIM:610205
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Hypospadias, Sparse eyelashes, Cleft upper lip, Hypoplasia of the maxi... OMIM:106260
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Depressed nasal bridge, Antever... OMIM:618161
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Coarse hair, Generalized ... ORPHA:955
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Thin upper lip vermilion, Broad nasal tip, Narrow jaw, Wide nasal bridge, Thin eyebrow, High ante... OMIM:618147
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Mandibulofacial Dysostosis With Alopecia
Preauricular pit, Alopecia, Hydroureter, Bicuspid aortic valve, Sparse eyelashes, Delayed eruptio... OMIM:616367
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Ventricular septal defect, Proteinuria, Nephrogenic diabetes insipidus, Nephrocalci... OMIM:613404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Facial palsy, Cryptorchidism, Flexion contracture, Skeleta... OMIM:613156
Cohen Syndrome
Ventricular septal defect, Prominent nasal bridge, Thick hair, Micrognathia, Hypoplasia of the ma... ORPHA:193
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Synophrys, Hypertrophy of the urinary bladder, Atrial septal defect, ... ORPHA:280633
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Basal cell carcinoma, Pleural effusion, Ascites ORPHA:314473
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Dilation of Virchow-Robin spaces, Transient ischemic attack, Lacunar stroke, Hypertension, Stroke OMIM:616779
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Lymphoma, Ascites ORPHA:100025
Flat Face-Microstomia-Ear Anomaly Syndrome
Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Long nose, Underdeveloped nasal ala... ORPHA:1968
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Hepatomegaly, Ascites ORPHA:2198
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Cln3 Disease
Increased circulating androgen concentration, T-wave inversion, Bradycardia, Left ventricular hyp... ORPHA:228346
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Atrial septal defect, Atrioventricul... OMIM:265380
Acrofacial Dysostosis, Catania Type
Microretrognathia, Preauricular pit, Hypospadias, Abnormal hair pattern, Carious teeth, Cryptorch... ORPHA:1786
Fabry Disease
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur... OMIM:301500
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Wide nose, Hypoplasia of the zygomatic bone, Anteverted nares ORPHA:3074
Pituitary Gigantism
Mandibular prognathia, Elevated circulating growth hormone concentration, Increased circulating i... ORPHA:99725
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... OMIM:267010
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Cryptorchidism, Wide nasal bridge, Low posterior hairline, Hypoplasia of t... ORPHA:1778
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Dysostosis, Stanescu Type
Narrow nasal bridge, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Carious teeth,... ORPHA:1798
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... ORPHA:320
Lowry-Maclean Syndrome
Short nasal bridge, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia... ORPHA:2409
Skraban-Deardorff Syndrome
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Full cheeks, R... OMIM:617616
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Ascites, Hydrops fetalis OMIM:619433
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Bamforth-Lazarus Syndrome
Abnormal hair quantity, Choanal atresia, Thyroid agenesis, Congenital hypothyroidism, Retrognathia ORPHA:1226
Congenital Fibrinogen Deficiency
Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Left ventricular hypertrophy, M... ORPHA:335
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of th... OMIM:166300
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Tented upper lip vermilion, Hypospadias, Choanal atresia, Micrognathia... OMIM:619148
Tangier Disease
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Nail dystr... OMIM:205400
Distal Duplication 18Q
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Car... ORPHA:1716
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... ORPHA:86812
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Neoplasm, Pleural ef... ORPHA:1041
Treacher-Collins Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Hypoplasia o... ORPHA:861
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Diabetes mellitus, Myocardial infarction, Premature coronary artery atherosclerosis OMIM:608320
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo... ORPHA:521308
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Camptodactyly of finger, Abnormal renal morphology, Hypoplasia... ORPHA:83
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Choanal atresia, Facial palsy, Carious teeth, Absent eyelashes, Bulbous... ORPHA:2316
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio... ORPHA:90065
Familial Median Cleft Of The Upper And Lower Lips
Median cleft lip, Abnormal midface morphology, Abnormality of orbicularis oris muscle, Cleft uppe... ORPHA:401942
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Synophrys, Low posterior hairline, Thin vermilio... ORPHA:1895
Weiss-Kruszka Syndrome
Preauricular pit, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Highly arch... OMIM:618619
Noonan Syndrome 8
Curly hair, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral regurgita... OMIM:615355
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Prominent nose, Bilateral cryptorchidism, Atrial septal defect, Pa... ORPHA:466791
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Vesi... ORPHA:3208
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites OMIM:174050
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Adrenal hypoplasia, Mi... OMIM:613177
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... ORPHA:275555
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Cardiomegaly, Ab... ORPHA:904
Familial Cervical Artery Dissection
Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Carotid arte... ORPHA:36382
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Nephrogenic diabetes insipidus, Supernumerary tooth, Hypoplasia of t... ORPHA:3145
Malignant Peritoneal Mesothelioma
Ascites, Neoplasm, Pedal edema ORPHA:168811
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Everted lower lip vermilion, Advanced erupt... OMIM:614753
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... OMIM:615474
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... OMIM:265400
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis, Coronary artery atherosclerosis OMIM:616833
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites ORPHA:890
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Ascites, Edema OMIM:603278
Splenoportal Vascular Anomalies
Splenomegaly, Ascites OMIM:271500
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Intraventricular hemorrhage, Wide nasal bridge, Hydroce... OMIM:613603
Trimethylaminuria
Splenomegaly, Hypertension, Tachycardia, Trimethylaminuria OMIM:602079
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Anteverted nares, Depressed nasal bridge, Camptodactyly of f... ORPHA:920
Recon Progeroid Syndrome
Skeletal muscle atrophy, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, ... OMIM:620370
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... ORPHA:3287
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Cavernous hemangioma, Pulmonic stenosis, Pulmonary arteri... OMIM:616028
Nestor-Guillermo Progeria Syndrome
Micrognathia, Flexion contracture, Atherosclerosis, Microretrognathia, Alopecia, Sparse eyebrow, ... OMIM:614008
Marshall-Smith Syndrome
Brittle hair, Bilateral cryptorchidism, Synophrys, Choanal stenosis, Atrial septal defect, Sparse... OMIM:602535
Mucopolysaccharidosis, Type X
Aortic regurgitation, Thickened aortic valve cusp, Wide nasal bridge, Nephrolithiasis, Dermatan s... OMIM:619698
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Depressed nasal bridge, Abnormal den... ORPHA:1452
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... ORPHA:439232
Andersen-Tawil Syndrome
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Prominent U wave, Abnormal ... ORPHA:37553
Bronchopulmonary Dysplasia
Right ventricular failure, Right ventricular hypertrophy ORPHA:70589
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Myocardial infarction, Hypertension, Type II diabetes mellitus, Premature c... OMIM:610947
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Broad nasal tip, Secundum atrial septal defect, Bifid nasal tip, Absence of renal corticomedullar... OMIM:619758
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Renal insufficiency, Midface retrusion, Anteverted nares, Hypospadias, ... OMIM:611209
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... OMIM:603965
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Hypertension, Increased urinary porphobilinogen, Elevate... OMIM:121300
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Choanal atresia, Anteverted nares, Micrognathia, Hypospadias, Cryptorc... ORPHA:494344
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios ORPHA:1046
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Hypoplasia of the zygomatic bone, Prominent nasal bridge ORPHA:319171
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy, Increased urine alpha-ketoglutarate concentration OMIM:614458
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Postauricular pit, Atrial sep... OMIM:312870
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... OMIM:614473
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Dextrocardia, Camptodactyly of finger, Micrognathia, Renal hypoplasia/... ORPHA:2863
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, ... OMIM:608149
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Renal insufficiency, Recurrent urinary tract infections, Proteinuria,... OMIM:619487
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Pulmonary artery atr... ORPHA:401935
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Arrhythmia ORPHA:3222
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Frontal hirsuti... OMIM:612949
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia ORPHA:2972
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Microgna... ORPHA:2260
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Micrognathia, Long nose, Ren... ORPHA:52
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the zygomatic bone, Wide nasal bridge ORPHA:710
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Anteverted nares, Depressed nasal bri... ORPHA:2067
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, B-cell lymphoma, Edema, Lymphedema, Lymphoma, Chylous ascites, Anasarca, P... ORPHA:90363
3Mc Syndrome 2
Prominence of the premaxilla, Torticollis, Hypospadias, Prominent nasal bridge, Hypoplasia of the... OMIM:265050
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Glomerulopathy, Renal insufficiency, Proteinuria, Malar prominence, Hypopl... ORPHA:2715
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Synophrys, Midface retrusion, ... OMIM:618737
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Fg Syndrome Type 1
Hypospadias, Choanal atresia, Progressive flexion contractures, Micrognathia, Prominent nose, Cry... ORPHA:93932
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Ketonuria, Dilated ... OMIM:619167
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Vici Syndrome
Everted upper lip vermilion, Median cleft lip, Depressed nasal bridge, Wide nose, Hypopigmentatio... OMIM:242840
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Joubert Syndrome 14
Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Highly arched eyeb... OMIM:614424
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... OMIM:613237
Charge Syndrome
Vesicoureteral reflux, Micropenis, Depressed nasal bridge, Hypogonadotropic hypogonadism, Facial ... ORPHA:138
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... OMIM:618719
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Prominent nose... OMIM:150230
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis OMIM:607832
Werner Syndrome
Skeletal muscle atrophy, Myocardial infarction, Abnormal cerebral vascular morphology, Abnormal h... ORPHA:902
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias... ORPHA:369929
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hypertension, Coronary art... ORPHA:79084
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Preauricular pit, Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Muscular... OMIM:619227
Intellectual Disability, Wolff Type
Microretrognathia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Bulbous nose, Non-midlin... ORPHA:3080
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop... ORPHA:324
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Mogs-Cdg
Hepatomegaly, Wide nose, Alopecia, Left ventricular hypertrophy, Fair hair, Cardiomegaly, Hirsuti... ORPHA:79330
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ca... OMIM:300967
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... ORPHA:1248
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... ORPHA:83469
Cranioectodermal Dysplasia 2
Hepatomegaly, Renal insufficiency, Left ventricular hypertrophy, Depressed nasal bridge, Sparse e... OMIM:613610
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Hypertension, Type II diabetes mellitus, Prematu... OMIM:615703
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Broad eyebrow OMIM:618302
Aarskog-Scott Syndrome
Delayed eruption of teeth, Anteverted nares, Camptodactyly of finger, Cleft upper lip, Hypoplasia... ORPHA:915
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Methimazole Embryofetopathy
Ventricular septal defect, Choanal atresia, Hypospadias, Abnormality of the thyroid gland, Coarct... ORPHA:1923
Sweeney-Cox Syndrome
Choanal atresia, Micrognathia, Broad nasal tip, Underdeveloped nasal alae, Bilateral cryptorchidi... OMIM:617746
Distal Xq28 Microduplication Syndrome
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Hypothyroidism, Patent ductus arteriosus, ... ORPHA:293939
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Aortic regurgitation, Bicuspid aortic valve, Thick hair, Highly arched eye... ORPHA:401923
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Highly arched eyebrow, Micrognathia, Hypoplasia of the maxilla, Retinal te... OMIM:620157
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... ORPHA:84090
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal tip, Depressed nasal bridge, Abn... ORPHA:439822
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Mulibrey Nanism
Hepatomegaly, Wide nose, Depressed nasal bridge, Nephroblastoma, Cardiomegaly, Absent frontal sin... OMIM:253250
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia,... ORPHA:2166
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakn... ORPHA:98915
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Broad nasal tip, Micrognathia, Crypto... OMIM:615524
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Abnormal ... ORPHA:93110
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion, Fibrosarcoma, Ascites ORPHA:314478
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy OMIM:105200
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Hypoplasia of the abdominal wall musc... OMIM:612289
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal cardiac septum morphology,... OMIM:612626
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal jugular vein morphology, Increased pulmonary vascular resistanc... ORPHA:275766
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Anteverted nares, Choanal a... ORPHA:280200
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Hypertension, Pulmonary arteri... OMIM:613320
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Anteverted nares, Depressed nasal... ORPHA:93473
Woods Syndrome
Ventricular septal defect, Supernumerary nipple, Wide nasal bridge, Thin vermilion border, Fronta... OMIM:615236
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Ventricular septal defect, Choanal atresia, Micrognathia, Preauricular skin tag... OMIM:610536
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke, Stroke OMIM:182410
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Highly arched eyebrow, Cleft u... OMIM:243310
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG... OMIM:615418
Treacher Collins Syndrome 3
Malar flattening, Hypoplasia of the zygomatic bone, Micrognathia OMIM:248390
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati... OMIM:208050
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Sinusitis, Recurrent intrapulmonary hemorrhage, Abnormal per... ORPHA:183
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Bicuspid aortic valve, Mitral atresia, Anteverted nares, Micrognathia, Hypospadias, Hi... OMIM:220111
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Micrognathia, Frontal hirsutism, Cryptorchidism, Pate... ORPHA:3304
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi... ORPHA:1529
Microcephaly 10, Primary, Autosomal Recessive
Arthrogryposis multiplex congenita, Prominent nasal bridge, Choanal atresia, Micrognathia OMIM:615095
Filippi Syndrome
Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Hypertri... OMIM:272440
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites OMIM:301045
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive... ORPHA:363618
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Hypertension, Concave nasal ridge, P... OMIM:617763
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy... ORPHA:3044
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thin vermilion border, Hypoplasia of the zygomatic bone, Thick eyebrow, Fine hair OMIM:614800
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... OMIM:602088
Carpenter Syndrome 1
Preauricular pit, Midface retrusion, Hydroureter, Ventricular septal defect, Depressed nasal brid... OMIM:201000
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Prominent nasal bridge, Highly arched eyebrow, H... OMIM:609460
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Sy... ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Thin upper lip vermilion, Macroorchidism, Ventricular septal defect, Promine... OMIM:309520
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Depressed nasal bridge, Choanal atresia, Abnormality of thyroid physiology, Prominent nose, Bulbo... OMIM:300968
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Low anterior hairline, Muscular dystrophy OMIM:613153
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Patent ductus arteriosus, Choanal stenosis, Atrial septal defect, Short nose, M... ORPHA:1790
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge, Choanal atresia ORPHA:93262
Monosomy 18P
Alopecia, Micrognathia, Carious teeth, Wide nasal bridge, Low posterior hairline, Hypertension, H... ORPHA:1598
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Wide nasal bridge,... OMIM:601499
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Maternal diabetes, Congestive hea... ORPHA:79083
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, W... OMIM:619149
Bladder Cancer
Transitional cell carcinoma of the bladder, Bladder neoplasm OMIM:109800
Lujan-Fryns Syndrome
Macroorchidism, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the ... ORPHA:776
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Craniofacial osteoscler... OMIM:122860
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Calf muscle hyp... ORPHA:280356
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose, Mitral valve prolapse ORPHA:90653
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Bicuspid aortic valve, Depressed nasal bridge, Congenital diaphragmatic hernia... OMIM:245600
Schimke Immuno-Osseous Dysplasia
Nephropathy, Nephrotic range proteinuria, Depressed nasal bridge, Minimal change glomerulonephrit... ORPHA:1830
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Micrognathia, Abnormality of the sense... ORPHA:958
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Myopathy, Left ve... OMIM:617713
Chromosome 3Pter-P25 Deletion Syndrome
Preauricular pit, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent n... OMIM:613792
Lymphoproliferative Syndrome 2
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphoma, Hodgkin lymphoma, Hepatosplen... OMIM:615122
Schimke Immunoosseous Dysplasia
Renal insufficiency, Depressed nasal bridge, Transient ischemic attack, Proteinuria, Bilateral cr... OMIM:242900
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Renal hypoplasia, Nail dystrophy, Camptodactyly OMIM:246560
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Nephropathy, Arterial stenosis ORPHA:820
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... ORPHA:1359
Treacher Collins Syndrome 2
Microretrognathia, Preauricular pit, Choanal atresia, Micrognathia, Hypoplasia of the zygomatic b... OMIM:613717
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasi... ORPHA:1166
Melorheostosis With Osteopoikilosis
Hypertension, Multiple lipomas ORPHA:1879
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney d... ORPHA:110
Noonan Syndrome 10
Curly hair, Mitral stenosis, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Patent du... OMIM:616564
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Thin upper lip vermilion, Recurrent urinary tract infections, Ventricular s... ORPHA:261330
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, Synophrys, Renal cyst, Vesicourete... OMIM:122470
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Amelogenesis imperfecta,... OMIM:601216
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H... ORPHA:2872
Distal Deletion 12Q
Micrognathia, Ectopic kidney, Vesicoureteral reflux, Micropenis, Patent foramen ovale, Anteverted... ORPHA:96149
Intellectual Developmental Disorder, Autosomal Recessive 69
Facial hypotonia, Hyperplasia of the maxilla OMIM:618383
Seckel Syndrome 10
Microretrognathia, Ventricular hypertrophy, Diabetes mellitus, Elevated circulating luteinizing h... OMIM:617253
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Depressed nasal bridge, Protei... OMIM:619127
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Thin vermilion border, Convex nasal ridge OMIM:156510
German Syndrome
Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Crypt... ORPHA:2077
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidism, Patch... ORPHA:85279
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Ketonuria, Dic... OMIM:619355
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Choanal atresia, Hypospa... OMIM:300712
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... ORPHA:1791
Glycogen Storage Disease Iv
Polyhydramnios, Edema, Hydrops fetalis, Hepatosplenomegaly, Ascites OMIM:232500
Senior-Loken Syndrome
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Preauricular pit, Ventricular septal defect, Renal agenesis, Renal hypoplasia/aplasia, Underdevel... ORPHA:2516
Tonne-Kalscheuer Syndrome
Decreased testicular size, Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, ... OMIM:300978
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Thick hair, Postauricular skin tag, Wide nasal bridge, Abnormal... ORPHA:217017
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Abnormal renal morphology, Flexi... OMIM:207410
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Pleural effusion, Ascites, Oligohydramnios OMIM:614702
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Vascular dilatation, Abnormal ... ORPHA:3342
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Micrognathia, Abnormal hair whorl... ORPHA:79474
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Choanal stenosis, Atrial septa... OMIM:241310
Diamond-Blackfan Anemia 10
Ventricular septal defect, Choanal atresia, Congenital diaphragmatic hernia, Ectopic kidney, Micr... OMIM:613309
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyop... ORPHA:746
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Aortic va... OMIM:220220
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Ventricular septal defect, Hypospadias, Congenital diaphragmatic h... OMIM:617602
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Depressed nasal bridge, Congenital diaphragmatic hernia, Micrognath... OMIM:614437
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Tricuspid regurgitation, Anteverted nares, Highly arched eyebrow, Hypoplasia o... ORPHA:228396
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
8P23.1 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidis... ORPHA:251071
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... OMIM:613095
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:604292
Pentasomy X
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Wide nasal bridge, Abnormal card... ORPHA:11
Orofaciodigital Syndrome I
Microretrognathia, Dry hair, Median cleft lip, Proteinuria, Alopecia, Hamartoma of tongue, Cleft ... OMIM:311200
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Anteverted nares, Nephroblastoma, Micrognathia, Cryptorchidism... ORPHA:2849
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Ascites, Hydrops fetalis OMIM:269920
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Ret... ORPHA:52055
Choanal Atresia And Lymphedema
Pericardial effusion, Choanal atresia OMIM:613611
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Right ventricular dilatation, Atri... OMIM:619472
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Multipl... ORPHA:1349
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Atrioventricular block, Mi... ORPHA:371428
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal bridge, Hypertension... OMIM:614052
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypopl... ORPHA:87
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Midface retrusion, Broad nasal tip ORPHA:2776
Crouzon Syndrome
Hypoplasia of the maxilla, Convex nasal ridge, Choanal atresia, Midface retrusion ORPHA:207
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Frontal balding ORPHA:93945
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Choanal atresia, Hypospa... ORPHA:163979
Intellectual Developmental Disorder, Autosomal Recessive 45
Anteverted nares, Highly arched eyebrow, Bulbous nose, Synophrys, Wide nasal bridge, Thick vermil... OMIM:615979
Braddock-Carey Syndrome 1
Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Antev... OMIM:619980
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Urinary incontinence, Hypoplasia of the maxilla, Lower limb amyotrophy, Urinary... OMIM:300266
Familial Atrial Myxoma
Cardiac myxoma, Ascites, Pedal edema ORPHA:615
Verheij Syndrome
Thin upper lip vermilion, Ventricular septal defect, Anteverted nares, Renal agenesis, Broad nasa... OMIM:615583
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Complete atrioventricular canal defect, Midface retrusion, Atrioventri... OMIM:619142
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Dry hair, Abnormal atrioventricular valve physiology, Abno... ORPHA:576
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... OMIM:173900
Simple Cryoglobulinemia
Myocardial infarction, Mesangial hypercellularity, Nephritis, Membranoproliferative glomeruloneph... ORPHA:91139
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
8Q12 Microduplication Syndrome
Ventricular septal defect, Highly arched eyebrow, Wide nasal bridge, Vesicoureteral reflux, Evert... ORPHA:228399
Cohen Syndrome
Facial hypotonia, Prominent nasal bridge, Decreased response to growth hormone stimulation test, ... OMIM:216550
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent... ORPHA:324410
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension,... ORPHA:494424
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Bilateral cryptorchidism, Pat... OMIM:300472
Tempi Syndrome
Transudative pleural effusion, Hemangioma, Ascites ORPHA:284227
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Hyperphosphaturia, Choanal atresia, Micrognathia, Hypercalci... OMIM:156400
Suleiman-El-Hattab Syndrome
Microretrognathia, Thin upper lip vermilion, Thick eyebrow, Ventricular septal defect, Highly arc... OMIM:618950
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... OMIM:208000
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Raynaud phenomenon, Hypertension, Stroke, Moyamoya phenomenon ORPHA:401945
Von Hippel-Lindau Disease
Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Papillary cystadenom... ORPHA:892
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Low anterior hairline, W... OMIM:218000
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Hypoplasia of the maxilla, Preauricular skin tag, Atrial septal defect, Malar flatt... ORPHA:79113
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Low anterior hairline... ORPHA:363705
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Lung adenoc... OMIM:618913
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Conotruncal defect, Hypoplasti... ORPHA:40366
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Thin upper lip vermilion, Hepatomegaly, Diabetes mellitus, Depressed nasal bridge, Choanal atresi... OMIM:610199
Beare-Stevenson Cutis Gyrata Syndrome
Preauricular pit, Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Promine... OMIM:123790
Cerebrofacioarticular Syndrome
Hypospadias, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Wide na... ORPHA:314679
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217085
Congenital Toxoplasmosis
Hepatomegaly, Ascites ORPHA:858
Alstrom Syndrome
Hepatomegaly, Renal insufficiency, Alopecia, Hypergonadotropic hypogonadism, Decreased response t... OMIM:203800
Postaxial Acrofacial Dysostosis
Choanal atresia, Abnormality of the kidney, Cleft upper lip, Micrognathia, Cryptorchidism, Supern... OMIM:263750
8Q22.1 Microdeletion Syndrome
Sparse eyelashes, Camptodactyly of finger, Highly arched eyebrow, Abnormal hair pattern, Hypoplas... ORPHA:178303
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, A... ORPHA:136
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, I... ORPHA:347
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Decreased response to growth hormone stimul... OMIM:610829
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Cryptorchid... ORPHA:2256
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Hypospadias, Sparse eyelashes, Cleft upper lip, Hypoplasia of the maxilla... OMIM:129400
Smith-Magenis Syndrome
Mandibular prognathia, Everted upper lip vermilion, Abnormality of the thyroid gland, Synophrys, ... OMIM:182290
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... ORPHA:1135
Alport Syndrome
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Dif... ORPHA:63
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:129900
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Abnormal penis morphology, Hypospadias, Hypopla... ORPHA:2588
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Vesicoureteral reflux, A... ORPHA:567
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Abnormality o... ORPHA:56
Meier-Gorlin Syndrome 7
Urethral stricture, Ventricular septal defect, Choanal atresia, Hypospadias, Heart block, Complet... OMIM:617063
Holoprosencephaly 7
Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Flat nasal alae, Synophrys, ... OMIM:610828
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:619343
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217093
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Long eyelashes, Coarctation of aorta OMIM:616069
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hematuria, Hypertension, S... OMIM:617021
Polyarteritis Nodosa
Pericarditis, Abnormality of the kidney, Raynaud phenomenon, Cardiomyopathy, Hypertension ORPHA:767
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... ORPHA:93101
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites OMIM:608776
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Sparse... OMIM:608156
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Micrognathia, Intracranial hemorrhage, Dystrophic fingernails, Absent eyeb... ORPHA:740
Free Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Ascites, Hydrops fetalis ORPHA:834
Opitz-Kaveggia Syndrome
Multiple joint contractures, Hypospadias, Choanal atresia, Cleft upper lip, Prominent nose, Micro... OMIM:305450
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Thin upper lip vermilion, Scapular winging, Hyperthyroidism, Preauricular ... OMIM:170390
Autosomal Dominant Progressive External Ophthalmoplegia
Quadriceps muscle weakness, Ragged-red muscle fibers, Hypothyroidism, Hyperthyroidism, Facial pal... ORPHA:254892
Axenfeld-Rieger Syndrome
Depressed nasal bridge, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge, Everted lower ... ORPHA:782
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Hypertension, Acute kidney injury OMIM:618886
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Teebi Hypertelorism Syndrome 1
Preauricular pit, Natal tooth, Thin upper lip vermilion, Ventricular septal defect, Anteverted na... OMIM:145420
Coach Syndrome 1
Hepatomegaly, Anteverted nares, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Mul... OMIM:216360
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopa... OMIM:249270
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Secundum atrial septal def... OMIM:612562
Marcus-Gunn Syndrome
Nephrolithiasis, Abnormality of the sense of smell, Choanal atresia, Abnormal heart morphology ORPHA:91412
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Prominent superficial veins, Insulin-resistant diabetes mellitus, Hypertension, Cor... OMIM:608600
Martsolf Syndrome 1
Depressed nasal bridge, Cardiac arrest, Hypogonadotropic hypogonadism, Micrognathia, Hypoplasia o... OMIM:212720
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridg... OMIM:139210
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Depressed nasal bridge, Hypoplasia of the maxilla, Sparse eyebrow, Widow's pe... OMIM:167730
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:85450
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial... ORPHA:284984
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes ins... OMIM:209900
Pseudomyxoma Peritonei
Ascites ORPHA:26790
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension OMIM:201910
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Abnormal external nose morpholo... ORPHA:556955
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Cerebral hemorrhage, Elevated urinary norepinephrine level, Conge... ORPHA:94080
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Anteverted nares, Facial palsy, Micrognathia, Aplasia of the pectoralis ... ORPHA:1358
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Blepharocheilodontic Syndrome 1
Choanal atresia, Cleft upper lip, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Liddle Syndrome
Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia ORPHA:526
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Ventricular septal defect, Anteverted nares, Parachute mitral valve, Pr... OMIM:618316
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Choanal atresia, Cleft upper lip, Cryptorchidism, Anosmia, Delayed... OMIM:147950
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Renal insufficiency, Anteverted nares, Depressed nasal bridge, Unilateral ... OMIM:181270
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Osteoglosphonic Dysplasia
Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Multiple unerupted teeth ORPHA:2645
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Abnormal midface morphology, Failure of eruption of permanent teeth, Promi... ORPHA:2769
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal br... ORPHA:2662
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Scapular winging, Thick eyebrow, Ventricular septal defect, Depressed n... OMIM:617061
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, P... OMIM:194050
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Rhabdoid Tumor
Renal neoplasm, Hematuria, Hypertension, Neoplasm of the central nervous system, Internal hemorrh... ORPHA:69077
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper li... ORPHA:1106
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Astrocytoma, Proteinuria, Insulin-resistant diabetes... ORPHA:79086
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Micrognathia, Pulmonary artery atresia, Atrial septal defect, Di... OMIM:601186
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Hypertension, Myopathy, Generalized hirsutism ORPHA:363400
3C Syndrome
Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Depressed nasal... ORPHA:7
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Duane-Radial Ray Syndrome
Renal malrotation, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, R... OMIM:607323
Zaki Syndrome
Sparse scalp hair, Wide nose, Anteverted nares, Renal agenesis, Congenital diaphragmatic hernia, ... OMIM:619648
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Prominent nasal bridge, Narrow nasal ridge, Mitral valve prolapse, Hypertension... OMIM:616914
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Intracranial hemor... ORPHA:90795
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Au-Kline Syndrome
Wide nasal ridge, Prominent nasal bridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchid... OMIM:616580
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Sparse eyelashes, Urinary incontinence, Micrognathia, Carious teeth, Pericardial effusion, Sparse... OMIM:620070
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Short nose ORPHA:1914
Van Maldergem Syndrome 2
Tented upper lip vermilion, Depressed nasal bridge, Hypospadias, Micrognathia, Hypoplasia of the ... OMIM:615546
Gapo Syndrome
Hepatomegaly, Alopecia, Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Facial p... OMIM:230740
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri... ORPHA:976
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Short nose, Retrognathia, Generalized hirsutism ORPHA:561
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mandibular prognathia, Hyperthyroidism, Diabetes mellitus, Mitral valve prolapse, Hypertension, A... ORPHA:449291
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Synophrys, Wid... OMIM:618067
Neuraminidase Deficiency
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites OMIM:256550
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Klippel-Trénaunay Syndrome
Hepatomegaly, Edema, Hydrops fetalis, Hemangioma, Ascites ORPHA:90308
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Abnormal nasal morphology, Absent eyelashes, Hypoplasia of the zygomatic bone, Hy... OMIM:200110
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism, Choanal atresia OMIM:613970
Supernumerary Nostril
Abnormality of ethmoid sinus, Supernumerary naris, Choanal atresia ORPHA:141096
Lysinuric Protein Intolerance
Hepatomegaly, Proteinuria, Glomerulonephritis, Decreased response to growth hormone stimulation t... ORPHA:470
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Anteverted nares, Dextrocardia, Frontal balding, Micrognathia, Precoci... ORPHA:96092
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Dilated cardiomyopathy, Wide nasal bridge, Po... ORPHA:2229
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop... ORPHA:950
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the premaxilla, Unilateral renal age... ORPHA:2673
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Hepatomegaly, Ascites OMIM:619463
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Micrognathia, Renal cyst, Microphallus, Vesicoureteral reflux, P... OMIM:618454
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Bulbous nose, Wide nasal bridge, Atrial septal defect, Malar flattening ORPHA:93946
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Hypertension, Tubulointer... OMIM:615862
Trisomy 12P
Supernumerary nipple, Micrognathia, Wide nasal bridge, Full cheeks, Abnormality of the urinary sy... ORPHA:1699
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Anteverted nares, Slow-growing hair, Hypoplasia of the maxilla... ORPHA:238468
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee flexion contract... OMIM:617402
Renal Hypodysplasia/Aplasia 1
Proteinuria, Hypertension, Bilateral renal agenesis, Retrognathia, Renal dysplasia OMIM:191830
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla... ORPHA:251061
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hypertension, Insulin-resistant diabetes mellitus, Stroke OMIM:613877
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Decreased response to growth hormone stimulation test, Micrognathia, Hypoplasia of the maxilla, S... OMIM:213980
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Distal lower limb amyotrophy, Facial hypotonia, ... OMIM:300534
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Midface retrusion OMIM:612247
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Hepatomegaly, Temporomandibular joint ankylosis, Wide nasal ... ORPHA:580
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Bulbous... ORPHA:369891
Radial Ray Hypoplasia With Choanal Atresia
Choanal stenosis, Small thenar eminence, Depressed nasal bridge, Choanal atresia OMIM:179270
Pfeiffer Syndrome
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Choana... OMIM:101600
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Hypertension, Hypogonadism, Limb muscle weakness, Diabetes... ORPHA:97229
Koolen-De Vries Syndrome
Ureteral duplication, Hypopigmentation of hair, Bicuspid aortic valve, Abnormal dental enamel mor... ORPHA:96169
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Diabetes insipidus, Facial hypotonia, Thick lower lip vermilion, Wide nasal bridge, Hyperplasia o... OMIM:611087
Bamforth-Lazarus Syndrome
Thyroid agenesis, Bilateral choanal atresia, Congenital hypothyroidism OMIM:241850
Filippi Syndrome
Wide nose, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Underdevelope... ORPHA:3255
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Renal insufficiency, Telangiectasia of the skin, Micrognathia, Cryptorchidis... ORPHA:85321
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Anteverted nares, Micrognathia, Sparse eyebrow, Wide nasal bridge, Mi... OMIM:618810
Fanconi Anemia
Micrognathia, Neoplasm, Atrial septal defect, Abnormality of the hypothalamus-pituitary axis, Hyp... ORPHA:84
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, De... OMIM:101200
Tetanus
Tachycardia, Elevated urinary norepinephrine level, Trismus, Elevated urinary epinephrine level, ... ORPHA:3299
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Midface retrusion, Choanal atresia, Portal hypertension, Hashimoto thyroiditis, Spl... OMIM:613385
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Highly arched eyebrow, Cryptorchidism, Bulbous n... OMIM:615009
Acromegaly
Mandibular prognathia, Synophrys, Wide penis, Pituitary prolactin cell adenoma, Generalized hirsu... ORPHA:963
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Abnormal internal carotid artery morphology, Elevated ... ORPHA:97685
Raine Syndrome
Mandibular prognathia, Natal tooth, Hydroureter, Depressed nasal bridge, Choanal atresia, Highly ... OMIM:259775
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Long nose, ... OMIM:257850
Aarskog-Scott Syndrome
Decreased serum testosterone concentration, Anteverted nares, Elevated circulating luteinizing ho... OMIM:305400
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Lipodystrophy, Familial Partial, Type 3
Prominent superficial veins, Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulin... OMIM:604367
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Hallermann-Streiff Syndrome
Natal tooth, Alopecia, Sparse eyelashes, Choanal atresia, Micrognathia, Underdeveloped nasal alae... ORPHA:2108
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ... ORPHA:276621
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... OMIM:618845
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Micrognathia, Synophrys, Low anterior hairline, Atrial septal defect, Late... OMIM:610759
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Multiple myeloma, Pulm... OMIM:230800
Hypoglossia-Hypodactyly Syndrome
Hypoplasia of the zygomatic bone, Wide nasal bridge, Micrognathia ORPHA:989
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Prominent ... ORPHA:500159
Trisomy 18
Microretrognathia, Ventricular septal defect, Choanal atresia, Abnormality of the upper urinary t... ORPHA:3380
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Diabetes mellitus, Prominent nose, Secundum atrial septal defect, Micrognathia, Preauricular skin... OMIM:620194
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Prominent nasal bridge OMIM:300676
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventricular septal d... OMIM:220500
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Anteverted na... ORPHA:420561
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... ORPHA:90793
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephr... OMIM:614034
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Type I diabetes mel... OMIM:618500
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Abnormal hair morphology, Depressed nasal ridge, Choanal atresia, Cleft upper lip OMIM:607597
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Thin upper lip vermilion, Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, El... OMIM:614376
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Weakness of facial musculature, Raynaud phenomenon, Pun... ORPHA:247691
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Prominent nasal bridge, Micrognathia, Flexion contracture, Renal hypoplasia, Lactic... OMIM:604273
Wagro Syndrome
Mandibular prognathia, Proteinuria, Multiple exostoses, Micrognathia, Hypertension, Malar flatten... OMIM:612469
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Mandibular prognathia, Abnormal renal glomerulus morphology, Renal insufficiency, Membranoprolife... OMIM:137940
Adams-Oliver Syndrome 1
Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upper lip... OMIM:100300
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Protein... ORPHA:29072
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Wolman Disease
Splenomegaly, Hepatomegaly, Ascites ORPHA:75233
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Glioma, Choanal atres... OMIM:251260
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Skeletal muscle atrophy, Abnorma... ORPHA:192
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Coarse hair, Atrial septal defect, Nephrit... OMIM:617303
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Thin upper lip vermilion, Ve... OMIM:301044
Denys-Drash Syndrome
Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma ORPHA:220
Pseudohypoaldosteronism Type 2
Hypertension, Abnormal dental enamel morphology ORPHA:757
Overlap Myositis
Proximal muscle weakness in upper limbs, Diabetes mellitus, Abnormality of the kidney, Raynaud ph... ORPHA:206572
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Depre... OMIM:619720
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Aminoaciduria, Thick vermilion border, Full cheeks ORPHA:833
Aicardi Syndrome
Prominence of the premaxilla, Anteverted nares, Cleft upper lip, Precocious puberty, Teratoma, Ca... OMIM:304050
Intellectual Developmental Disorder, X-Linked 106
Thin upper lip vermilion, Bicuspid aortic valve, Hypospadias, Cryptorchidism, Synophrys, Thick ve... OMIM:300997
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Hypertension, Myopathy, Muscular dystrophy, Lower lim... OMIM:615980
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Ureteropelvic junction obstruction, Vesicovaginal fistula, Wide nasal brid... OMIM:300896
Stiff Skin Syndrome
Hypertension, Type II diabetes mellitus, Nephrolithiasis, Midface retrusion ORPHA:2833
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Broad nasal tip, Hypoplasia of the maxilla, Patent ductus arteriosus, ... ORPHA:79345
Somatomammotropinoma
Mandibular prognathia, Broad jaw, Wide nose, Diabetes mellitus, Hypogonadotropic hypogonadism, Dy... ORPHA:314769
Florid Cemento-Osseous Dysplasia
Jaw swelling, Abnormal midface morphology, Mandibular osteomyelitis, Supernumerary tooth, Dental ... ORPHA:83451
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Choanal atresia, Anteverted nares, Micrognathia, Hypospadias, Cryptorc... OMIM:616975
Kabuki Syndrome 2
Natal tooth, Highly arched eyebrow, Micrognathia, Broad nasal tip, Lower lip pit, Dental malocclu... OMIM:300867
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Moyamoya phenomenon OMIM:615750
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Renal cyst, Subependymal giant-cell astrocytoma, Pheoc... ORPHA:805
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Anteverted nares, Hypospadias, Cardiomegaly, Micrognathia, Flexion con... OMIM:616897
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Flexion contracture of finger, Prominent su... OMIM:601812
Autosomal Dominant Popliteal Pterygium Syndrome
Thin upper lip vermilion, Choanal atresia, Lip pit, Micrognathia, Cryptorchidism, Non-midline cle... ORPHA:1300
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Paradoxical increased cortisol secretion on dexametha... ORPHA:189427
Snijders Blok-Campeau Syndrome
Prominent nose, Wide nasal bridge, Taurodontia, Perimembranous ventricular septal defect, Pulmoni... OMIM:618205
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... OMIM:103900
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Bilateral cryptorchidism, Coronal hypo... OMIM:619859
Hunter-Macdonald Syndrome
Aortic regurgitation, Thin upper lip vermilion, Bicuspid aortic valve, Hypospadias, Patent ductus... OMIM:611962
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... ORPHA:231625
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Lymphoma, Pleural effusion, Ascites ORPHA:36412
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Anteverted nares, Foot joint contracture, Micrognathia, Sparse eyebrow... ORPHA:444072
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Renal insufficiency, Proteinuria, Prominent nasal bridge, Hypoplasia of the ma... ORPHA:1307
Hallermann-Streiff Syndrome
Natal tooth, Sparse scalp hair, Sparse eyelashes, Prominent nasal bridge, Micrognathia, Underdeve... OMIM:234100
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Telangiectasia of the skin, Micrognathia, Cryptorchidism, Lymp... ORPHA:99812
Combined Oxidative Phosphorylation Deficiency 5
Ascites, Edema OMIM:611719
Restrictive Dermopathy
Ureteral duplication, Multiple joint contractures, Micrognathia, Sparse hair, Atrial septal defec... ORPHA:1662
Keutel Syndrome
Sinusitis, Ventricular septal defect, Cartilaginous ossification of nose, Depressed nasal bridge,... OMIM:245150
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size ORPHA:93950
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Rubinstein-Taybi Syndrome 1
Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Bilateral cryptorch... OMIM:180849
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... OMIM:615962
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Curly hair, Ventricular septal defect, Depressed nasal ... OMIM:617140
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Prominent nose, Neoplasm, Atrial septal defect, Depressed nasal bridge, Abnormal circulating thyr... ORPHA:480880
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge, Midface retrusion ORPHA:1540
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Hypospadias, Sparse eyelashes, Micrognathia, Carious teeth, Underdeveloped nasa... OMIM:613026
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Wide nose, Sparse scalp hair, Ventricular septal defect, Bicuspid aorti... OMIM:618027
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Everted upper lip vermilion, Brittle hair, Depressed nasal bridge, Absent nipple,... OMIM:305100
Squalene Synthase Deficiency
Depressed nasal bridge, Bicuspid aortic valve, Hypospadias, Micrognathia, Bilateral cryptorchidis... OMIM:618156
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperte... ORPHA:251004
Ganglioneuroma
Gastrointestinal hemorrhage, Neoplasm of the adrenal gland, Hamartomatous polyposis, Hypertension... ORPHA:251992
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Cryptorc... ORPHA:1926
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypertension, Stroke, C... OMIM:603903
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Spondyloenchondrodysplasia
Delayed eruption of teeth, Enchondroma, Proteinuria, Decreased response to growth hormone stimula... ORPHA:1855
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Maternal diabet... ORPHA:3027
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebro... OMIM:239300
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Alopecia, Mitral regurgitation, Hypertensive crisis OMIM:301080
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow... ORPHA:329224
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Flexion contr... ORPHA:481152
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... ORPHA:97362
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Retrognathia,... OMIM:616462
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Cor pulmonale, Tubulointerstitial fibrosis OMIM:263000
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Renal hypoplasia, Hyperten... OMIM:617595
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Bicuspid aortic valve, Hypoplastic left heart, Sparse hair, Atrial septal ... OMIM:619721
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Choan... OMIM:166250
Coach Syndrome 2
Hypertension, Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Micrognathia, Thyroid lymphang... OMIM:235255
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Pelvic mass, Spinal cord tumor, Ovarian neoplasm, Ascit... ORPHA:370348
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal alae, Hypopl... ORPHA:306542
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Peripheral edema, Pleural effusion, Ascites, Generalized edema ORPHA:64739
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve, Foot joint contracture, Synophrys, Wide nasal bridge, Thick vermilion bord... OMIM:619641
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Unila... OMIM:101800
Hemochromatosis, Type 1
Splenomegaly, Hepatomegaly, Pleural effusion, Ascites OMIM:235200
Hardikar Syndrome
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Preauricula... OMIM:301068
Glutaric Aciduria Iii
Hypertension, Glutaric aciduria, Hyperthyroidism, Goiter OMIM:231690
Porphyria Variegata
Proximal muscle weakness in upper limbs, Tachycardia, Neurogenic bladder, Chronic kidney disease,... ORPHA:79473
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal ... ORPHA:477817
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Edema, Oligohydramnios OMIM:608104
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Transient ischemic attack, Depressed nasal bridge, Supernumerar... OMIM:600268
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Facial capillary hemangioma, ... ORPHA:818
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Sparse scalp hair, Diabetes mellitus, Ventricular septal defect, Highly... OMIM:270450
Renal Agenesis
Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age... ORPHA:411709
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Proteinuria, Micrognathia, Sparse eyebrow, Cryptorchidi... OMIM:249620
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Micrognathia, Stage 5 chronic kidney disease, Coarctati... OMIM:617729
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Carious teeth, Fu... ORPHA:2791
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... ORPHA:77296
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Restrictive Dermopathy 1
Natal tooth, Ureteral duplication, Depressed nasal bridge, Choanal atresia, Narrow nasal ridge, M... OMIM:275210
Weill-Marchesani Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arter... OMIM:277600
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental... OMIM:300519
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Noonan Syndrome 6
Curly hair, Juvenile myelomonocytic leukemia, Depressed nasal bridge, Long eyebrows, Cryptorchidi... OMIM:613224
Acrocraniofacial Dysostosis
Preauricular pit, Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Advanc... ORPHA:949
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Ganglioneuroblastoma, Elevated urinary dopamine level, Abno... OMIM:256700
Proboscis Lateralis
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Choana... ORPHA:141099
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypopituitarism, Diabetes mellitus, Depressed nasal bridge, Hypoplasia of the... ORPHA:231226
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ... ORPHA:2036
Pycnodysostosis
Obtuse angle of mandible, Decreased serum insulin-like growth factor 1, Decreased response to gro... ORPHA:763
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Hirsutism, Horseshoe kidney, Low hanging columella OMIM:619318
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypertension,... ORPHA:231632
Pediatric-Onset Graves Disease
Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyro... ORPHA:525731
Cockayne Syndrome A
Mandibular prognathia, Dry hair, Prominent nose, Sparse hair, Micropenis, Hepatomegaly, Cryptorch... OMIM:216400
Stimmler Syndrome
Type II diabetes mellitus, Aminoaciduria, Abnormal dental enamel morphology ORPHA:3199
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital muscular torticollis, Ventricular septal defect, Bicuspid ao... ORPHA:457279
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Atrial septal defect OMIM:615981
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Sparse facial hair, Sparse axillary hair OMIM:608154
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Mi... ORPHA:404440
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Sinusitis, Recurrent intrapulmonary he... ORPHA:900
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... OMIM:147250
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Myocardial infarction, Atrioventricular canal defect, Abnormality of the pul... ORPHA:500
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Midface retrusion, Hypospadias, Unilateral renal agenesis, Highly arche... OMIM:616737
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Wide nasal bridge, Nephrocalcinosis, Joint contracture, Atrial septal d... OMIM:618005
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertens... OMIM:219080
Van Maldergem Syndrome 1
Tented upper lip vermilion, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Wide anterior f... OMIM:601390
Cholestasis, Progressive Familial Intrahepatic, 3
Splenomegaly, Hepatomegaly, Ascites OMIM:602347
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Nelson Syndrome
Increased urinary cortisol level, Lower limb muscle weakness, Quadriceps muscle atrophy, Pituitar... ORPHA:199244
Anophthalmia Plus Syndrome
Abnormal nasal morphology, Non-midline cleft lip, Choanal atresia, Bilateral cleft lip and palate ORPHA:1104
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Cornelia De Lange Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Synophrys, Low anterior hairl... ORPHA:199
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Prominent nasal bridge, Anteverted nares, Hypos... OMIM:617751
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol le... OMIM:615830
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Lacticaciduria, Aminoaciduria, Adrenal insufficiency, Hypertrophic cardiomyo... OMIM:619386
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy OMIM:618321
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Brittle hair, Prominent nasal bridge, Hypoplasia of the max... ORPHA:50814
Charge Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec... OMIM:214800
Eec Syndrome
Hypospadias, Choanal atresia, Abnormal dental enamel morphology, Renal hypoplasia/aplasia, Cariou... ORPHA:1896
Paroxysmal Hemicrania
Focal sensory seizure with olfactory features, Hypertension, Diabetes mellitus, Rhinitis ORPHA:157835
Primary Intestinal Lymphangiectasia
Edema, Disseminated cutaneous warts, Pericardial effusion, Pleural effusion, Ascites, Generalized... ORPHA:90362
Hamamy Syndrome
Prolonged QRS complex, Micrognathia, Hyperplasia of midface, Sparse hair, Atrial septal defect, A... OMIM:611174
Isolated Ectopia Lentis
Mandibular prognathia, Malar flattening, Hypertension ORPHA:1885
Bohring-Opitz Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Cleft upper lip, Micrognathi... OMIM:605039
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Abnormality of the ovary, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Cleft upper lip, Aminoaciduria, Hypogonadism, Hypoplastic nipples, Sparse hair, Arrhythmia OMIM:273400
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Atelosteogenesis, Type Iii
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Midface retrusion OMIM:108721
Fryns Syndrome
Multicystic kidney dysplasia, Tented upper lip vermilion, Median cleft lip, Anteverted nares, Hyp... ORPHA:2059
Trisomy 18P
Facial palsy, Highly arched eyebrow, Underdeveloped nasal alae, Micrognathia, Bilateral cryptorch... ORPHA:1715
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Synophrys, Low anterior hairline, Hepatomegaly, Highly arched eyebrow, Pat... OMIM:135500
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Conical incisor, Vesicoureteral reflux, Atrial septal defect, Pleural lymphangiec... OMIM:235510
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... ORPHA:84081
Griscelli Syndrome
Splenomegaly, Hepatomegaly, Ascites, Pedal edema ORPHA:381
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Dental malocclusion, Wide nasal bridge, Fine hair, Abnormal cardiac septum... ORPHA:3079
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Anteverted nares, Micrognathia, Abnormal cardiac ventricle morphology, Pat... ORPHA:2306
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Atrial septal defect, Depressed nasal ... OMIM:135900
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Mandibular prognathia, Synophrys, Thick lower lip vermilion, Anosmia, Wide nasal bridge, Thick ey... OMIM:210745
Alg8-Cdg
Ascites, Hydrops fetalis, Edema, Oligohydramnios ORPHA:79325
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Hypopituitarism, Diabetes mellitus, Depressed nasal bridge, Hyp... ORPHA:231214
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Cryptor... ORPHA:2075
Treacher Collins Syndrome 1
Sparse lower eyelashes, Choanal atresia, Micrognathia, Cryptorchidism, Abnormal heart morphology,... OMIM:154500
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Wide nose, Hypoplasia of the maxilla, Abnormal eyelash morphology, Sparse eye... ORPHA:2399
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Hepatosplenomegaly, Ascites ORPHA:367
Niemann-Pick Disease, Type A
Splenomegaly, Hepatomegaly, Ascites OMIM:257200
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Absent nipple, Anteverted nares, Spa... OMIM:209885
Specc1L-Related Hypertelorism Syndrome
Preauricular pit, Atrial septal defect, Thick eyebrow, Ventricular septal defect, Prominent nasal... ORPHA:1519
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Coffin-Siris Syndrome 4
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Ventricula... OMIM:614609
Distal Deletion 15Q
Thin upper lip vermilion, Multicystic kidney dysplasia, Decreased serum insulin-like growth facto... ORPHA:1596
Classic Galactosemia
Hepatomegaly, Ascites ORPHA:79239
Cockayne Syndrome Type 1
Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Foot joint contracture, De... ORPHA:90321
Pallister-Hall Syndrome
Adrenal hypoplasia, Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Atrial septal... ORPHA:672
Thyroid Cancer, Nonmedullary, 2
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Follicular thyroid carcinoma OMIM:188470
Monosomy 9P
Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Choanal atresia, Mi... ORPHA:261112
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Hypospadias, Cl... ORPHA:2008
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... OMIM:605373
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Absent nipple, Choanal atresia OMIM:113700
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Elevated circulating parathyroid hormone level, Pheochromocytoma, Elev... ORPHA:653
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Hepatomegaly, Sparse scalp hair, Depressed nasal bridge, Fair hair, Microgn... OMIM:266920
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Broad nasal tip, He... OMIM:607014
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Choanal atresia, Wide nasal bridge ORPHA:2759
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Micrognathia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... OMIM:617913
Smith-Lemli-Opitz Syndrome
Micrognathia, Facial capillary hemangioma, Renal cyst, Atrial septal defect, Micropenis, Penoscro... OMIM:270400
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Renal insufficiency, Pulmonary lymphangiectasia, Wide nasal bridge, Mitral va... OMIM:247410
Cantú Syndrome
Abnormal heart valve morphology, Anteverted nares, Curly eyelashes, Cardiomegaly, Patent ductus a... ORPHA:1517
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Hypertension, Enamel hypoplasia, Convex nasal ridge OMIM:610965
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Facial hypertrichosis, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Oligo... ORPHA:397709
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Wide nose, Membranoproliferative glomerulonephritis, Ventricular septal defect, Mic... OMIM:619525
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, D... OMIM:301050
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating cortisol level, Choanal stenosis, Micropenis, Decreased circulating renin l... OMIM:201750
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Hashimoto thyroiditis, Elevated circulating creatinine concentratio... ORPHA:49041
Weill-Marchesani Syndrome 2
Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Congestive heart fa... OMIM:608328
Meier-Gorlin Syndrome 3
Microretrognathia, Hypospadias, Prominent nasal bridge, Sparse axillary hair, Micrognathia, Hypop... OMIM:613803
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Depressed nasal bridge, Double outlet... ORPHA:3426
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... ORPHA:417
Maternal Phenylketonuria
Ventricular septal defect, Anteverted nares, Micrognathia, Abnormal renal morphology, Wide nasal ... ORPHA:2209
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Prolonged QT interval, Calcinosis, Depressed nasal bridge, Decreased r... ORPHA:79443
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Anteverted nares, Mi... OMIM:616894
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Prominent nose, Hirsutism, Abnormal mandible condylar process morphology, Incr... ORPHA:2976
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Hypertension, Diabetic ketoaci... OMIM:615238
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Facial diplegia, Nail d... ORPHA:31150
Oculomaxillofacial Dysostosis
Median cleft lip, Camptodactyly of finger, Abnormality of the nose, Underdeveloped nasal alae, Mi... ORPHA:1794
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Penoscrota... OMIM:211380
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, Patent ductus... ORPHA:555877
Nephroblastoma
Hematuria, Hypertension, Neoplasm of the lung, Neoplasm, Nephroblastoma ORPHA:654
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Horseshoe kidney, Midface retrusion, Vesicoureteral refl... ORPHA:93260
Shprintzen-Goldberg Syndrome
Anteverted nares, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Cryptorchidis... ORPHA:2462
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Contracture of the proximal i... OMIM:300998
2Q37 Microdeletion Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Congen... ORPHA:1001
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Bulbous nose, Wide nasal bridge, Abnormal heart morphology, Full cheeks, Horiz... OMIM:618571
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion, Breast hypopl... OMIM:613804
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Narrow nasal bridge, Hip contracture, Interphalangeal joint contractur... OMIM:259600
Heart And Brain Malformation Syndrome
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Camptodactyly of finger, Wid... OMIM:616920
Cockayne Syndrome B
Mandibular prognathia, Slender nose, Renal insufficiency, Hepatomegaly, Proteinuria, Prominent na... OMIM:133540
Postorgasmic Illness Syndrome
Hypertension, Palpitations, Abnormality of the nose ORPHA:279947
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Prominent scalp veins, Hypospadias, Choanal atresia, Anterior pituitary hy... OMIM:151050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Epistaxis, Carious teeth, Stage 5 chronic kidney disease, Nephrolithia... ORPHA:79259
Waardenburg Syndrome Type 1
Mandibular prognathia, Hypopigmentation of hair, Tented upper lip vermilion, White eyelashes, Whi... ORPHA:894
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Choanal atresia, Portal hypertension, Thyroiditis, Hepatosplenomegaly, Camptodactyly, Type I diab... ORPHA:228426
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, Atrial septal defect, Mesocar... ORPHA:2044
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Bicuspid aortic valve, Broad nasal tip, Micrognathia, Wide nasal bridge, Long e... OMIM:618529
Pseudo-Torch Syndrome 2
Hepatomegaly, Pleural effusion, Ascites OMIM:617397
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Renal artery aneurysm, Lymphoproliferative disorder, Portal hypertension, Raynaud p... OMIM:615688
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Patent ductus arteriosus, Low anterior hairline, Coarse hair, Aplasia/... ORPHA:2095
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Tented upper lip vermilion, Depressed nasal bridge, Restrictive cardiomyopath... ORPHA:369837
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Hypospadias, Choanal atresia, Hypogonadotropic hypogonadism, Cryptorc... OMIM:603457
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Decreased testicular size, Multicystic kidney dysplasia, Prominent nasal br... ORPHA:261349
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Hy... OMIM:219090
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Ascites, Edema, Generalized edema OMIM:226300
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, Atrial septal defect,... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, Atrial septal defect,... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, Atrial septal defect,... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, Atrial septal defect,... ORPHA:881
Syndromic Diarrhea
Brittle hair, Bicuspid aortic valve, Hypoplasia of the thymus, Hepatoblastoma, Atrial septal defe... ORPHA:84064
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Facial edema, Pedal edema, Anasarca, Pleural effusion, Ascites ORPHA:567546
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Micrognathia, Secundum atrial septal defe... OMIM:300855
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... OMIM:194080
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Prominent n... OMIM:610443
Hall-Riggs Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Thick hair, Promi... ORPHA:2107
Ichthyosis, Split Hairs, And Amino Aciduria
Abnormal hair morphology, Aminoaciduria OMIM:242550
Yunis-Varon Syndrome
Narrow nasal base, Sparse scalp hair, Ventricular septal defect, Anteverted nares, Hypospadias, C... ORPHA:3472
Erythrocytosis, Familial, 1
Splenomegaly, Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hyperaldosteronism, Decreased circul... OMIM:613677
Eosinophilic Gastroenteritis
Ascites, Edema ORPHA:2070
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Lead Poisoning
Delayed eruption of teeth, Chronic kidney disease, Renal tubular dysfunction, Hypertension, Tubul... ORPHA:330015
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukemia, Ascites, Hematological neoplasm ORPHA:98850
Corticosteroid-Binding Globulin Deficiency
Hypertension, Decreased circulating cortisol level, Hypotension, Decreased urinary potassium OMIM:611489
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Carious teeth, Congestive heart failure, Flexion... ORPHA:220393
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na... OMIM:619995
Aicardi Syndrome
Prominence of the premaxilla, Cleft upper lip, Precocious puberty, Multiple lipomas, Delayed pube... ORPHA:50
Poems Syndrome
Lymphoproliferative disorder, Edema, Pericardial effusion, Pleural effusion, Hemangioma, Ascites,... ORPHA:2905
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Retinal arteriol... ORPHA:191
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Dilatation of the cerebral artery, Polycystic kidney dysplasia OMIM:600666
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Sialuria
Thin upper lip vermilion, Hepatomegaly, Splenomegaly, Synophrys, Hirsutism, Wide nasal bridge, Lo... OMIM:269921
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Non-midli... ORPHA:1908
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Skeletal muscle atrophy, Scapular winging, Hydroureter, Interphalangea... OMIM:305620
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Underdeveloped nasal alae, Prominent nose, Precocious pube... ORPHA:2637
Scimitar Syndrome
Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing... ORPHA:185
Frontorhiny
Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Widow's peak, Hypoplasti... ORPHA:391474
Orofaciodigital Syndrome Type 4
Hamartoma, Wide nose, Median cleft lip, Renal agenesis, Choanal atresia, Camptodactyly of finger,... ORPHA:2753
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Hepatoblast... ORPHA:731
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Prominent nose, Flexion contracture, Renal cyst, Knee flexion contracture, Atrial s... OMIM:210710
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Thin upper lip vermilion, Renal insufficiency, Anteverted nares, Renal agenesis, Unilateral renal... OMIM:617641
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Carney Triad
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... ORPHA:139411
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Flexi... ORPHA:96334
Cowden Syndrome 1
Hyperthyroidism, Subcutaneous lipoma, Micrognathia, Hypoplasia of the maxilla, Fibroadenoma of th... OMIM:158350
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nose, Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Promin... ORPHA:2995
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Thin upper lip vermilion, Otosclerosis, Decreased response to growth hormo... ORPHA:529962
Shprintzen-Goldberg Craniosynostosis Syndrome
Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Wide anterior fontanel... OMIM:182212
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Central retinal vessel vascular tortuosity, Chronic kidney disease, Calcif... OMIM:208060
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Thin upper lip vermilion, Wide nose, Hypoplasia of the bladder, Bicuspid aortic valve, Depressed ... OMIM:300707
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Adrenal hypoplasia, Absent nasal... OMIM:157170
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Aortic regurgitation, Bicuspi... ORPHA:508498
Prader-Willi Syndrome
Narrow nasal bridge, Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth ho... ORPHA:739
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Und... OMIM:600920
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia OMIM:601809
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Hyperplasia of the maxilla OMIM:613671
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di... ORPHA:90068
Distal Deletion 19P
Alopecia, Ventricular septal defect, Hypoplasia of the maxilla, Tricuspid valve prolapse, Pulmona... ORPHA:96129
Cowden Syndrome 6
Hyperthyroidism, Subcutaneous lipoma, Micrognathia, Hypoplasia of the maxilla, Fibroadenoma of th... OMIM:615109
Opitz Gbbb Syndrome
Thin upper lip vermilion, Abnormal nasopharynx morphology, Ventricular septal defect, Anteverted ... OMIM:300000
Hyperaldosteronism, Familial, Type Iv
Hypertension, Hyperaldosteronism OMIM:617027
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Bundle branch block, Ureteral duplication, Hypoplasia of penis, Congenital... ORPHA:373
Robinow Syndrome
Micrognathia, Atrial septal defect, Webbed penis, Micropenis, High anterior hairline, Multicystic... ORPHA:97360
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus ar... OMIM:121050
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria, Depressed nasal bridge OMIM:249650
Dengue Fever
Hepatomegaly, Ascites ORPHA:99828
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Dermotrichic Syndrome
Short nose, Aminoaciduria, Depressed nasal bridge, Nail dystrophy ORPHA:99688
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Lateral Meningocele Syndrome
Neurogenic bladder, Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Micr... OMIM:130720
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Deviated nasal septum, Midface retrusion, Dysge... OMIM:123500
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Facial palsy, Micrognathia, Wide nasal bridge, Coarctation of aorta, A... ORPHA:2780
Sialidosis Type 1
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Increased urinary O-li... ORPHA:812
Reynolds Syndrome
Hepatomegaly, Ascites, Xerostomia ORPHA:779
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Elbow flexion contracture, Wide nasal... OMIM:618440
Bohring-Opitz Syndrome
Anteverted nares, Depressed nasal bridge, Facial hypotonia, Cardiomegaly, Micrognathia, Synophrys... ORPHA:97297
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Nephrogenic rest... OMIM:267000
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Hyper... OMIM:613159
Cowden Syndrome 5
Hyperthyroidism, Subcutaneous lipoma, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Breas... OMIM:615108
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Neoplasm of the lung, Neoplasm of the nervous system, Neoplasm of the eye, Ascites,... ORPHA:100085
Tetraamelia Syndrome 1
Renal agenesis, Choanal atresia, Congenital diaphragmatic hernia, Cleft upper lip, Micrognathia, ... OMIM:273395
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Wide nose, Multicystic kidney dysplasia, Vaginal neoplasm, Rhabdomyosarcoma... ORPHA:1052
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Adrenal calcification, Cardiomegaly, Abnormal retinal art... ORPHA:51608
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Hypertension, Lower limb hypertonia, Glomerulopathy ORPHA:2169
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hyperaldosteronism OMIM:605635
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm, Mitral valve prolapse, Recurrent sinusitis, Narrow maxilla OMIM:130000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Wide nasal bridge, Mitral valve prolapse, Nephropathy, H... ORPHA:1563
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Peripheral ... ORPHA:90041
Pfeiffer Syndrome Type 2
Malar flattening, Short nose, Depressed nasal bridge, Choanal atresia ORPHA:93259
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Branchioskeletogenital Syndrome
Mandibular prognathia, Penoscrotal hypospadias, Depressed nasal bridge, Ureteral stenosis, Abnorm... ORPHA:1299
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Neoplasm, Vesicoureteral reflux, Atrial septal defect, Hypospadias, Crypto... ORPHA:353281
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Elevated circulating creatinine concentration ORPHA:79126
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology,... ORPHA:2658
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Anteverted nares, Depressed nasal bridge... OMIM:613563
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Sparse hair, Hepatomegaly, Depressed nasal bridge, Highly arched eyebrow, Pulmonary artery stenos... OMIM:280000
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Esophageal Atresia
Barrett esophagus, Renal agenesis, Ventricular septal defect, Choanal atresia, Maternal diabetes,... ORPHA:1199
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, P... ORPHA:210122
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Myocardial infarction, Hypertension, Type II diabetes mellitus, Coro... OMIM:618620
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Nephrolithiasis, Hypertension, Foca... OMIM:232220
Kilquist Syndrome
Mandibular prognathia, Choanal atresia, Hypoplasia of teeth OMIM:619080
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Alopecia, Diabetes mellitus, Telangiectasia of the skin, ... ORPHA:1775
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Neurogenic bladder, Tented upper lip vermilion, V... ORPHA:488632
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Hypertension, Proximal limb muscle stiffness, Asymmetric limb mus... OMIM:184850
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Mitral atres... ORPHA:140952
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism OMIM:145260
Mohr Syndrome
Median cleft lip, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Broad nasal ti... OMIM:252100
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric... ORPHA:99827
Mullegama-Klein-Martinez Syndrome
Preauricular pit, Thin upper lip vermilion, Depressed nasal bridge, Facial palsy, Congenital diap... OMIM:301022
Congenital Sialidosis Type 2
Hepatomegaly, Ascites, Edema, Hepatosplenomegaly ORPHA:93400
Acute Intermittent Porphyria
Dark urine, Proximal muscle weakness in upper limbs, Tachycardia, Renal insufficiency, Urinary in... ORPHA:79276
Lig4 Syndrome
Myelodysplasia, Prominent nose, Hypothyroidism, Cryptorchidism, Low anterior hairline, Wide nasal... OMIM:606593
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Sparse e... ORPHA:1071
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus ar... ORPHA:1120
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Elevated urinary cate... OMIM:115310
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Prominent superficial veins, Insulin-resistant diabetes mellitus, Hyperinsulinemia,... OMIM:151660
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Mitral valve ... OMIM:104350
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Cleft upper lip, Hypoplasia of the... OMIM:263650
Budd-Chiari Syndrome
Splenomegaly, Hepatomegaly, Ascites ORPHA:131
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Stroke, Type II diabetes mellitus, Coronary artery stenosis OMIM:615812
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:93552
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Micrognathia, Cryptorchidi... OMIM:247200
X Small Rings
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Fet... ORPHA:96201
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Ascites ORPHA:2848
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Anteverted nares, Ventricular septal defect, Hypospadias, Micrognathia, Adrenal hyp... OMIM:214100
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Slow-growing hair, Highly arched eyebrow, Underdeve... OMIM:272950
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Pedal edema, Ascites ORPHA:77259
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Bulbous nose, Wide n... OMIM:617403
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, Vesicoureteral reflux, Atrial septal defect, Paten... ORPHA:2745
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Anterior pituitary hypoplasia, Micrognathia, B... OMIM:613457
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger ORPHA:1325
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
Galactosemia Iii
Splenomegaly, Hepatomegaly, Aminoaciduria, Galactosuria OMIM:230350
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Hypertension, Enuresis, Hyperaldosteronism, Hypocalciuria, Increase... OMIM:612780
Cardiomyopathy, Familial Hypertrophic, 4
Pericardial effusion, Hepatomegaly, Ascites, Pulmonary edema OMIM:115197
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Recurrent upper respiratory tr... OMIM:232240
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Alopecia, Peripheral arteriovenous fistula, Hypospadias, Abnormal eyelash mo... ORPHA:286
Glycogen Storage Disease Ia
Hepatomegaly, Decreased muscle mass, Proteinuria, Nephrolithiasis, Hypertension, Focal segmental ... OMIM:232200
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Facial palsy... ORPHA:31826
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Mitral valve calcification, Cardiomegaly, Hypoplasia of the maxilla, Ca... OMIM:182250
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the muscul... ORPHA:1101
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Liddle Syndrome 1
Hypertension, Renal insufficiency, Decreased circulating aldosterone level, Decreased circulating... OMIM:177200
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Tricuspid regurgitation, Dilation of Virchow-Robin spaces, Micrognathia, Hypoph... ORPHA:73223
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening, Absent extraocular muscles OMIM:109120
Postinfectious Vasculitis
Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, R... ORPHA:48435
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Abnormal tricuspid valve morpholog... ORPHA:1507
Vater/Vacterl Association
Renal dysplasia, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, Hyp... OMIM:192350
Lymphatic Malformation 12
Fetal ascites, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema OMIM:620014
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites OMIM:618183
Stickler Syndrome
Skeletal muscle atrophy, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bri... ORPHA:828
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Micrognathia, Cryptorchidism, Abnormal heart morphology, Aminoaciduria, Hypoplasia ... OMIM:214110
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Ascites OMIM:608013
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Hypertension, Optic nerve glioma, Pheochromocytoma, ... OMIM:162200
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic morpholog... ORPHA:2001
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Carious teeth, Cryptorchidism, ... ORPHA:2363
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Neoplasm of the thymus, Abnormal abdomen morphology, Pitu... ORPHA:97261
Scorpion Envenomation
Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Myocarditis, Congest... ORPHA:466677
Developmental And Speech Delay Due To Sox5 Deficiency
Mitral regurgitation, Hyperplasia of the maxilla ORPHA:313892
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury... OMIM:619825
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Porphyria, Acute Intermittent
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... OMIM:176000
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thin upper lip vermilion, Midface retrusion, Tented upper lip vermilion, Hypospadias, Unilateral ... ORPHA:487796
Gallbladder Neuroendocrine Tumor
Neoplasm of the nervous system, Ascites, Neuroendocrine neoplasm ORPHA:100086
Limb Body Wall Complex
Ventricular septal defect, Depressed nasal bridge, Choanal atresia, Abnormality of the kidney, Co... ORPHA:2369
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Facial capillary hemangioma, Cryptor... ORPHA:85276
Serotonin Syndrome
Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Acute kidney injury ORPHA:43116
Mercury Poisoning
Hypertension, Tachycardia, Acute kidney injury, Hypotension ORPHA:330021
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Choanal atresia, Micrognathia, Flexion contracture, Abnormality of m... ORPHA:98889
Lymphangioleiomyomatosis
Renal neoplasm, Lymphedema, Retinal hamartoma, Renal angiomyolipoma, Chylopericardium, Chylothora... ORPHA:538
Necrotizing Enterocolitis
Ascites, Edema ORPHA:391673
Hepatoportal Sclerosis
Splenomegaly, Ascites ORPHA:64743
Ayme-Gripp Syndrome
Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Broad eyebrow, Depressed nasal bri... OMIM:601088
Juvenile Paget Disease
Hypertension ORPHA:2801
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Abnormal abdomen morphology, Pituitary adenoma, Adrenocor... ORPHA:97278
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... OMIM:243910
Wolcott-Rallison Syndrome
Hepatomegaly, Ascites, Dehydration ORPHA:1667
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Micrognathia, Synophrys, Low anterior hairline, Atrial septal defect,... OMIM:613458
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Frontometaphyseal Dysplasia 2
Hip contracture, Neurogenic bladder, Decreased muscle mass, Depressed nasal bridge, Bicuspid aort... OMIM:617137
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Curly hair, Transient ischemic attack, Depressed nasal bridge, Unilateral ren... ORPHA:500150
Neonatal Marfan Syndrome
Tricuspid regurgitation, Micrognathia, Abnormal cardiac ventricle morphology, Flexion contracture... ORPHA:284979
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Temtamy Preaxial Brachydactyly Syndrome
Hypoplasia of the maxilla, Short nose, Talon cusp, Micrognathia ORPHA:363417
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Enamel hypomineralization, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting re... ORPHA:47159
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Abnormal abdomen morphology... ORPHA:97282
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Anteverted nares, Depressed nasal bridge,... ORPHA:513456
Saethre-Chotzen Syndrome
Depressed nasal bridge, Prominent nasal bridge, Abnormal hair pattern, Hypoplasia of the maxilla,... ORPHA:794
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Micropenis, Hypothyroi... ORPHA:1772
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Cor triatriatum, Prominent superficial veins, S... OMIM:612541
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Preauricular pit, Ventricular septal defect, Bicuspid aortic valve, Underdeveloped nasal alae, Hy... ORPHA:453499
Scarf Syndrome
Prominent nasal bridge, Diastasis recti, Cryptorchidism, Low anterior hairline, Wide nasal bridge... OMIM:312830
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:79238
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Hypoplasia of facial mus... OMIM:164210
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Vesicoureteral reflux, Atrial sep... OMIM:614749
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Anteverted nares, Micrognathia, Patent ductus arte... OMIM:164280
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Cavernous hemangioma, Hemangioma, Ascites OMIM:620244
Neurofibromatosis Type 1
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Spinal neurofibroma, Sarcoma, Abnormal... ORPHA:636
Renpenning Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Decreased testicular size, Brittle hair, Ventric... OMIM:309500
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Macroglossia, Fair hair OMIM:105830
Sclerosing Cholangitis, Neonatal
Splenomegaly, Hepatomegaly, Ascites OMIM:617394
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Prominent nose, Synophrys, Atrial sep... OMIM:612474
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Wide nose, Ventricular septal defect, Bicuspid aortic valve, Aortic roo... OMIM:616652
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... OMIM:608978
Diamond-Blackfan Anemia
Acute myeloid leukemia, Radial artery aplasia, Ventricular septal defect, Depressed nasal bridge,... ORPHA:124
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Tented upper lip vermilion, Abnormality of the kidney, Vertebrobasilar dol... ORPHA:521445
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... OMIM:614653
Cirrhosis, Familial
Ascites OMIM:215600
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Ascites ORPHA:91348
Okamoto Syndrome
Tented upper lip vermilion, Urinary incontinence, Primum atrial septal defect, Anteverted nares, ... ORPHA:2729
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Choanal atresia, Renal duplication OMIM:270420
Gracile Bone Dysplasia
Ascites OMIM:602361
Ring Chromosome 7 Syndrome
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Hypospadias, Highly arched eyebr... ORPHA:1449
Livedoid Vasculopathy
Diabetes mellitus, Telangiectasia of the skin, Abnormal capillary morphology, Venous insufficienc... ORPHA:542643
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... ORPHA:3097
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Ascites ORPHA:1655
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxill... ORPHA:2554
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Split Lower Lip
Lower lip pit, Narrow maxilla OMIM:183400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Renal tubu... ORPHA:213
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... OMIM:202010
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Orthostatic hypotension, Polyuria, Narrow nasal ridge, Pulmonary arteriovenous... OMIM:606721
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Bicuspid aortic valve, Micrognathia, Bulbous nose, Macroglossia, Aortic valve stenosis OMIM:614501
Neuroleptic Malignant Syndrome
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Myoglobinuria, Rhabdomyolysis... ORPHA:94093
Barber-Say Syndrome
Delayed eruption of teeth, Anteverted nares, Bulbous nose, Wide nasal bridge, Sparse or absent ey... ORPHA:1231
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Farber Disease
Joint swelling, Ascites, Hydrops fetalis, Hepatosplenomegaly ORPHA:333
Townes-Brocks Syndrome 1
Preauricular pit, Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, C... OMIM:107480
Faciocardiomelic Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Short eyelashes, Com... OMIM:612731
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... OMIM:614816
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Abnormal abdomen morphology, Pituitary adenoma, Adrenocor... ORPHA:97283
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Autoimmune Hepatitis
Splenomegaly, Ascites ORPHA:2137
Carpenter Syndrome 2
Bilateral cryptorchidism, Low anterior hairline, Knee flexion contracture, Atrial septal defect, ... OMIM:614976
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Preauricular pit, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Underde... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Preauricular pit, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Underde... ORPHA:352665
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Beta-Ketothiolase Deficiency
Hypertension, Ketonuria, Hypotension, Hepatomegaly ORPHA:134
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... ORPHA:199306
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites OMIM:620369
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmonary edema OMIM:261740
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick vermilion border, Micropenis OMIM:613805
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Anteverted nares, Prominent na... OMIM:607812
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Micrognathia, Nephrocalcinosis, Micropenis, Renal duplication, Anteve... OMIM:268310
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent foramen ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent foramen ... ORPHA:353277
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Thin upper lip vermilion, Sparse scalp hair, Anteverted nares, Narrow nasal tip, Hypospadias, Sup... ORPHA:477993
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:980
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunctio... ORPHA:436271
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Hip contracture, Hydroureter, Unilateral renal agenesis, Broad nasal ti... OMIM:619194
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Micrognathia, Recurrent upper respiratory tract infections, Wide nasal bridge, Arte... OMIM:233600
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegal... ORPHA:90340
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Tetralogy of Fallot OMIM:250620
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... ORPHA:2912
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Hematochezia, Hyperten... OMIM:615846
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Hamartoma of tongue, Prominent nose, Sparse eyebrow, Cryptorchidi... OMIM:616300
Bartter Syndrome Type 4
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... ORPHA:89938
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Hepatomegaly, Ascites OMIM:251880
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Bilateral renal hypoplasia, Capillary hemangioma, Vesicoureteral ref... ORPHA:508488
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Polyhydramnios, Hamartoma of tongue, Edema, Splenomegaly, Ascites OMIM:269860
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Mandibular prognathia, Thin upper lip vermilion, Subdural hemorrhage, Wide nasal bridge, Skeletal... OMIM:619714
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... ORPHA:99889
Fraser Syndrome 3
Ascites, Nonimmune hydrops fetalis, Oligohydramnios OMIM:617667
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Cleft of chin, Low anterior hairline, Breast carcinoma, Abn... OMIM:101400
Peters-Plus Syndrome
Ureteral duplication, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Conical inci... OMIM:261540
Cushing Disease
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... ORPHA:96253
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Meier-Gorlin Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Flexion contracture, Thick vermilion bor... OMIM:224690
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Sparse scalp hair, Pulmonary embolism, Intracranial he... ORPHA:394
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Hypertension, A... OMIM:235400
Adams-Oliver Syndrome
Ascites ORPHA:974
Hennekam Syndrome
Benign neoplasm of the central nervous system, Lymphedema, Pericardial effusion, Splenomegaly, Hy... ORPHA:2136
Liddle Syndrome 2
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Micrognathia, ... ORPHA:536545
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Anteverted nares, Short nail, Slow-growing hair, Renal magne... OMIM:218330
Familial Dysautonomia
Glomerulopathy, Orthostatic hypotension, Tachycardia, Renal insufficiency, Abnormality of the kid... ORPHA:1764
Spondyloenchondrodysplasia With Immune Dysregulation
Raynaud phenomenon, Recurrent sinusitis, Hypothyroidism, Midface retrusion, Narrow nose, Tubuloin... OMIM:607944
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Micrognathia, Biliary hyperplasia, Abnormal left ventricular function, Am... OMIM:619991
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Muscular dystrophy OMIM:204730
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Absent eyebrow, Multicystic kidney dysplasia, Alopecia, Hypospadias, Renal agene... OMIM:308205
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral art... OMIM:620025
Infection-Related Hemolytic Uremic Syndrome
Anuria, Diabetes mellitus, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic ra... ORPHA:544482
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Ascites, Hepatosplenomegaly ORPHA:79124
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Hypertension, Torticollis, Hypothyroidism ORPHA:98808
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Wide... ORPHA:30
Fumarase Deficiency
Cutaneous leiomyoma, Ascites, Polyhydramnios OMIM:606812
Intrahepatic Cholestasis Of Pregnancy
Ascites ORPHA:69665
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy, Slow-growing scalp hair, Horizontal eyebrow ORPHA:294023
Restrictive Dermopathy 2
Microretrognathia, Convex nasal ridge, Hypoplastic facial bones OMIM:619793
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Hydroureter, Choanal atresia, Abnormal dental enamel morphology, Abnorm... ORPHA:2273
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Micrognathia, Epispadias, Abnormal penis morphology, Tricuspid r... ORPHA:2556
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Lymphocytoma cutis, Tubulointerstitia... ORPHA:449395
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Faciocardiorenal Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Horseshoe kidney, Tricuspid valve prolapse, Endocar... ORPHA:1973
15q26 overgrowth syndrome
Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Promin... DECIPHER:81
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Alopecia, Neoplasm of the skeletal system, Abnormal eyelash morphology... ORPHA:2396
Fryns Syndrome
Microretrognathia, Ureteral duplication, Tented upper lip vermilion, Ventricular septal defect, A... OMIM:229850
Frontofacionasal Dysplasia
Frontal cutaneous lipoma, Underdeveloped nasal alae, Cleft upper lip, Midline defect of the nose,... OMIM:229400
Osteopetrosis, Autosomal Recessive 5
Splenomegaly, Hepatomegaly, Ascites, Hepatosplenomegaly OMIM:259720
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Hypospadias, Highly arched eyebrow, Micrognathia, Cryptorchidism, Patent ductus... ORPHA:2282
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Intracran... OMIM:613406
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Hypospadias, Abnormality of the kidney, Sup... OMIM:235730
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Micrognathia, Arterial tortuosity, Descending thoracic aorta aneurysm, Pat... OMIM:609192
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Synophrys, Depressed nasal ridge, Atrial septal defect, Hy... OMIM:607872
Congenital Tufting Enteropathy
Choanal atresia ORPHA:92050
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Preauricular pit, Scapular winging, Carious teeth, Dental malocclusion, Wide n... OMIM:615560
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Long nose, Atrial septal defect, Pelvic kidney, Antever... OMIM:619522
Immunodeficiency 22
Ascites OMIM:615758
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Grange Syndrome
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... OMIM:602531
Pseudohypoaldosteronism, Type Iic
Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Abnormal abdomen morphology, Pituitary adenoma, Adrenocor... ORPHA:97280
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Dilated cardiomyopathy, Hodgkin lymphoma, Biventricular hypertrophy, Hypertension, ... OMIM:619573
Primrose Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Flexion ... OMIM:259050
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Anteverted nares, Congenital diaphragmatic hernia, Muscular ventricula... OMIM:157800
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Aminoaciduria, Generalized hirsutism, Methylmalonic aciduria ORPHA:1933
Mitchell-Riley Syndrome
Ascites OMIM:615710
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair, Splenomegaly, Nephrocalcinosis, Cardiomyopathy, Aminoaciduria OMIM:616084
Pseudohypoaldosteronism, Type Iib
Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Pseudohypoaldosteronism OMIM:614495
Roberts-Sc Phocomelia Syndrome
Micrognathia, Knee flexion contracture, Midface capillary hemangioma, Sparse hair, Atrial septal ... OMIM:268300
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Tolchin-Le Caignec Syndrome
Osteochondroma, Thick eyebrow, Diastasis recti, Prominent nose, Precocious puberty, Micrognathia,... OMIM:618971
Alexander Disease
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Hypertension, Hypotens... ORPHA:58
Omodysplasia 1
Depressed nasal bridge, Ventricular septal defect, Micrognathia, Cryptorchidism, Pulmonary artery... OMIM:258315
Low Phospholipid-Associated Cholelithiasis
Hypertension, Diabetes mellitus, Cholelithiasis ORPHA:69663
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Pe... OMIM:180700
Primary Progressive Freezing Gait
Hypertension, Urinary incontinence ORPHA:75567
Glutamate-Cysteine Ligase Deficiency
Myopathy, Aminoaciduria, Hepatosplenomegaly ORPHA:33574
Pseudohypoaldosteronism, Type Iie
Hypertension, Pseudohypoaldosteronism OMIM:614496
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Hypertension, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism ORPHA:93256
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Ascites OMIM:200995
Methionine Malabsorption Syndrome
Aminoaciduria, White hair OMIM:250900
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Camptodactyly OMIM:231070
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage OMIM:603585
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Abnormality of dental color, Hyperphosphaturia, Precocious puberty, Horseshoe kidney, C... OMIM:163200
Systemic Lupus Erythematosus
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension ORPHA:536
Greenberg Dysplasia
Hepatomegaly, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ri... OMIM:215140
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Vent... OMIM:270100
Caroli Disease
Splenomegaly, Hepatomegaly, Ascites ORPHA:53035
Galactosemia I
Hepatomegaly, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Galactosuria, Increased... OMIM:230400
Fraser Syndrome 1
Absent eyebrow, Wide nose, Cleft ala nasi, Depressed nasal bridge, Hypospadias, Cleft upper lip, ... OMIM:219000
Alström Syndrome
Abnormality of dental color, Urinary incontinence, Decreased response to growth hormone stimulati... ORPHA:64
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Micrognathia, Oligosacchariduria, Nephrocalcinosis, A... ORPHA:534
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Talon cusp, Central... ORPHA:2751
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi... ORPHA:634
Wilson Disease
Hepatomegaly, Edema, Splenomegaly, Pedal edema, Ascites OMIM:277900
Atresia Of Urethra
Ascites, Oligohydramnios ORPHA:105
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Gener... OMIM:264090
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Hepatomegaly, Ascites OMIM:301072
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Hepatomegaly, Pleural effusion, Ascites OMIM:306400
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... ORPHA:447
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Preauricular pit, Crossed fused renal ectopia, Ventricular se... OMIM:147920
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Hypospadias, Decreased response to growth hormone stimulation test, Hyp... OMIM:180500
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Depressed nasal bridge, Abnormal ha... ORPHA:3071
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemoglobinuria, Hyp... ORPHA:90038
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Aort... OMIM:154700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious... ORPHA:438213
Primary Sclerosing Cholangitis
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Adenocarcinoma of the large intestine, Pleural ef... ORPHA:171
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Ascites, Polyhydramnios OMIM:617156
Acute Transverse Myelitis
Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Upper limb muscle weaknes... ORPHA:139417
Pierson Syndrome
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease... OMIM:609049
Pagod Syndrome
Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Situs inversus tota... ORPHA:991
Isolated Exencephaly
Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleto... ORPHA:563612
Blau Syndrome
Pericarditis, Camptodactyly of finger, Tendonitis, Hypertension, Flexion contracture of toe OMIM:186580
Cutis Marmorata Telangiectatica Congenita
Ascites, Capillary hemangioma ORPHA:1556
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Wide anterior fontanel, Supernumerary tooth, Delayed eruption of prima... OMIM:620099
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Primary Biliary Cholangitis
Ascites ORPHA:186
Hartsfield Syndrome
Wide nose, Median cleft lip, Hypospadias, Cleft upper lip, Cryptorchidism, Gonadotropin deficienc... OMIM:615465
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Ascites OMIM:256810
Xeroderma Pigmentosum
Conjunctival telangiectasia, Craniofacial hyperostosis, Alopecia, Telangiectasia of the skin, Fla... ORPHA:910
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Anteverted nares, Proboscis, Aortic valve atresia, D... OMIM:619895
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Micrognathia, Underdeveloped nasal alae, Contracture of the distal interphalangeal ... ORPHA:83617
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism,... OMIM:239200
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Wide nose, Multicystic kidney dysplasia, Ventricular ... OMIM:606170
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Elevated circulating creatinine concent... ORPHA:411634
Cystinosis, Nephropathic
Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,... OMIM:219800
D-Glyceric Aciduria
Patent ductus arteriosus, Aminoaciduria, Bradycardia, Micropenis OMIM:220120
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Lysosomal Acid Lipase Deficiency
Ascites, Dehydration, Hepatosplenomegaly ORPHA:275761
Familial Mediterranean Fever
Splenomegaly, Ascites, Pedal edema ORPHA:342
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Anasarca, Ascites OMIM:203700
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Tyrosinemia, Type I
Splenomegaly, Hepatomegaly, Ascites OMIM:276700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Nephrocalcinosis, Aminoaciduria,... OMIM:616026
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Ascites ORPHA:464321
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... OMIM:175050
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Vesicour... ORPHA:2152
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Aminoaciduria ORPHA:414
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Vesicour... ORPHA:261552
Progeroid Short Stature With Pigmented Nevi
Diabetes mellitus, Bicuspid aortic valve, Allergic rhinitis, Hypospadias, Chordee, Delayed pubert... OMIM:176690
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Vesicour... ORPHA:261537
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Ascites ORPHA:646
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria, Depressed nasal bridge OMIM:614520
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anasarca, Ascites, Oligohydramnios OMIM:613658
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, R... OMIM:601803
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Hypoplasia o... OMIM:614188
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Fine hair, A... OMIM:222700
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Yunis-Varon Syndrome
Thin upper lip vermilion, Sparse scalp hair, Absent nipple, Ventricular septal defect, Anteverted... OMIM:216340
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Depressed nasal bridge, Bicuspid aortic valve, Secundum atrial septal defect, Patent ductus arter... OMIM:613355
Kanzaki Disease
Telangiectasia of the oral mucosa, Depressed nasal bridge, Increased urinary O-linked sialopeptid... OMIM:609242
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Brittle hair, Ragged-red muscle fibers, Rhabdomyolysis, Lacticaciduria, Tubuloi... OMIM:124000
Argininosuccinic Aciduria
Abnormal hair quantity, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa ORPHA:23
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla OMIM:313500
Eisenmenger Syndrome
Hepatomegaly, Pedal edema, Peripheral edema, Ascites, Generalized edema ORPHA:97214
Costello Syndrome
Micrognathia, Sparse hair, Atrial septal defect, Lymphangiectasis, Anteverted nares, Depressed na... OMIM:218040
Tropical Endomyocardial Fibrosis
Hepatomegaly, Splenomegaly, Pedal edema, Peripheral edema, Ascites ORPHA:75565
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa OMIM:207900
Chronic Graft Versus Host Disease
Pleural effusion, Ascites, Xerostomia ORPHA:99921
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Hypoplastic facial bones, Camptodactyly OMIM:223800
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Cryptorchidism, Bicarbonaturia, ... OMIM:309000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Edema, Polyhydramnios, Splenomegaly, Ascites, Generalized edema OMIM:619534
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Ren... ORPHA:411629
Smith-Mccort Dysplasia 1
Hypoplastic facial bones OMIM:607326
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, Renal interstitial e... ORPHA:91500
Johanson-Blizzard Syndrome
Hepatomegaly, Splenomegaly, Anasarca, Ascites, Generalized edema OMIM:243800
Phakomatosis Pigmentokeratotica
Nephroblastoma, Rhabdomyosarcoma, Raynaud phenomenon, Precocious puberty, Cryptorchidism, Renal t... ORPHA:2874
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Linear Nevus Sebaceus Syndrome
Alopecia, Adenoma sebaceum, Cavernous hemangioma ORPHA:2612
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Nevus, Epidermal
OMIM:162900

Histopathology

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

There is no histopathology data for Hras

IMPC related publications

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

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Hrastm42445(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hrastm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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