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Gene: Vegfa MGI:103178

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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:
vascular endothelial growth factor A
Synonyms:
VEGF164,  VPF,  VEGF-A,  VEGF188,  Vegf,  VEGF120

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 Vegfa 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease Type 2B1
Inability to walk, Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amy... ORPHA:98856
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Axonal degeneration, Babinski sign, Tremor, Difficulty walking, Distal lower limb am... OMIM:302800
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Ethanolaminosis
Cardiomegaly OMIM:227150
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Respiratory insufficiency due to muscle weakness, Gowers sign, Degeneration of anterior horn cell... OMIM:159950
Spinal Muscular Atrophy, Type Iii
Loss of ambulation, Hand tremor, Pelvic girdle amyotrophy, Degeneration of anterior horn cells, P... OMIM:253400
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Frontal cortical atrophy, Brain atrophy, Shoulder girdle muscle atrophy, Limb muscle weakness, Lo... OMIM:167320
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Distal muscle weakness, Decreased motor nerve conduction veloc... OMIM:614436
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Distal muscle ... OMIM:601596
Ciliary Dyskinesia, Primary, 40
Infertility, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inver... OMIM:618300
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Babinski sign, Optic atrophy, Cogwheel rigidity, Spasticity, Spastic tetraparesis, Hypert... ORPHA:225154
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Ataxia, Hand muscle atrophy, Babinski sign, Spasticity of facial m... OMIM:205100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... OMIM:604484
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Brain atrophy, Abnormal motor neuron morphology, Increased variabi... ORPHA:52430
Pseudoxanthoma Elasticum
High palate, Angina pectoris, Telangiectasia of the skin, Excessive wrinkled skin, Sudden cardiac... ORPHA:758
Amegakaryocytic Thrombocytopenia, Congenital
Megakaryocytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Ventricular septal defect, Pulm... ORPHA:95430
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Kyphoscoliosis, Decreased sensory nerve conduction ve... OMIM:214400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Increased v... OMIM:613954
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... ORPHA:254361
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Lower-limb joint contracture, Upper-lim... ORPHA:300605
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Gowers sign, Decreased nerve conduction velocity, Internally nucleated skeletal muscle ... OMIM:618138
Myopathy And Diabetes Mellitus
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Progressive proximal muscle weakn... ORPHA:2596
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Decreased number of large peripheral myelinated nerve fibers, Limb at... OMIM:208920
Emanuel Syndrome
High palate, Cleft palate, Congenital hip dislocation, Ventricular septal defect, Anal atresia, M... OMIM:609029
Acute Erythroid Leukemia
Bone marrow hypercellularity, Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocel... ORPHA:318
Pseudoxanthoma Elasticum
Angina pectoris, Stroke, Macular degeneration, Accelerated atherosclerosis, Gastrointestinal hemo... OMIM:264800
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cer... OMIM:105550
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... OMIM:612158
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Abnormality o... ORPHA:96170
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Proximal muscle weakness, Axonal degeneration, Weakness of facial musculature,... OMIM:618811
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Loss of ambulation, Neuronal loss in central nervous system, Dista... OMIM:608627
Spinal Muscular Atrophy, Type Ii
Hand tremor, Degeneration of anterior horn cells, Spinal muscular atrophy, Muscle weakness, Tongu... OMIM:253550
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Axonal degeneration, Arthrogryposis-like hand anomaly, Distal muscle weakness, Diaphragmatic even... OMIM:620011
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Chore... ORPHA:282166
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Distal muscle weakness, Degeneration of anter... OMIM:602433
Arts Syndrome
Ataxia, Recurrent upper respiratory tract infections, Optic atrophy, Progressive muscle weakness,... OMIM:301835
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Cerebral cortical atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells,... OMIM:607596
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short neck, Ventricular septal defect, Webbed neck, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal cardiac ventricu... ORPHA:439232
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Muscle weakness, Distal upper limb amyotrophy, Abnor... ORPHA:65684
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Scoliosis, Foot dorsiflexor weakness, Distal sensory impairment, Gait distur... OMIM:616155
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricular septal defec... ORPHA:1727
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Short neck, Enlarged kidney, Optic atrophy, Thrombocytopenia,... OMIM:617303
Nephrotic Syndrome, Type 11
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... OMIM:616730
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... OMIM:601493
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Webbed neck, Atrial septal defect, Systolic heart murmur, Cyanosis, Tetralogy ... OMIM:617478
Timothy Syndrome
Hypocalcemia, Microdontia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Bronch... OMIM:601005
Galloway-Mowat Syndrome 7
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... OMIM:618348
Cockayne Syndrome Type 3
Stroke, Subdural hemorrhage, Retinal degeneration, Premature coronary artery atherosclerosis, Hep... ORPHA:90324
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Pulm... OMIM:601186
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Kyphoscoliosis, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Short ... OMIM:604168
Oculopharyngodistal Myopathy
Weakness of facial musculature, Difficulty walking, Distal lower limb amyotrophy, Fatigable weakn... ORPHA:98897
Thymic Aplasia With Fetal Death
Stillbirth, Truncus arteriosus OMIM:274210
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... ORPHA:399058
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Pulmonary ar... ORPHA:401935
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Hypoparathyroidism, Hypocalcemia, Velopharyngeal insuffi... OMIM:192430
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Waldenström Macroglobulinemia
Urticaria, Stroke, Hepatomegaly, Cutis marmorata, Gastrointestinal hemorrhage, Leukemia, Malabsor... ORPHA:33226
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Infertility, Right aortic arch, Situs inversus totalis OMIM:617577
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory ataxia, Cerebral atrophy, EMG: myopathic abnormalities, Parkinsonism, Sensory axonal neur... OMIM:609286
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Hypocalcemia, Failure to thrive,... ORPHA:3426
Desminopathy
Supraventricular arrhythmia, Loss of ambulation, Atrioventricular block, Spinal rigidity, Concent... ORPHA:98909
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Scapular winging, Hand muscle atroph... OMIM:616852
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Progressive proximal muscle we... ORPHA:98912
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Double outlet right ventricle, Atrial septal defect, Cryptorchidism, Severe failure ... ORPHA:3304
Marinesco-Sjogren Syndrome
Failure to thrive, Ataxia, Kyphosis, Limb ataxia, Flexion contracture, Short stature, Hypergonado... OMIM:248800
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Retinal degeneration, Abnormal renal physiolog... ORPHA:191
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Webbed neck, Hydranencephaly, Truncus arteriosus OMIM:601355
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Parkinsonism with favorable response to dopaminergic medication, Testicular atrophy, Hypergonadot... OMIM:157640
Gitelman Syndrome
Respiratory distress, Graves disease, Gout, Type I diabetes mellitus, Proteinuria, Primary hypera... ORPHA:358
Schimke Immuno-Osseous Dysplasia
Stroke, Short neck, Microdontia, Abnormal proportion of naive CD4 T cells, Proteinuria, Bone marr... ORPHA:1830
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Somatic sensory dysfunction, ... OMIM:612577
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Athetosis, Paralysis, Dystonia, Axonal loss OMIM:300857
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Hypocalcemia, Autoimmune hypoparathyroidism, Ventricular arrh... ORPHA:36913
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Diaphragmatic weakness, Decreased nerve conduction velocity, Axonal degenerati... OMIM:604320
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Delirium, Subarachnoid hemorrhage, Hematuria, ... ORPHA:90068
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... ORPHA:600
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Stroke, Raynaud phenomenon, Nephropathy, Hematuria, Retinal hemorrha... OMIM:611773
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Bone Marrow Failure Syndrome 1
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia OMIM:614675
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Quadriceps muscle weakness, Babinski sign, Paresis of extensor muscles of the big toe, Optic atro... ORPHA:99947
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
22Q11.2 Deletion Syndrome
Tricuspid atresia, Cholelithiasis, Cleft palate, Abnormality of the dentition, Short philtrum, Sh... ORPHA:567
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Megakaryocyte dysplasia, Pancytopenia, Bone marro... OMIM:619041
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Atrial septal defect, Elevated circulating propionylcarnitine concentration, M... OMIM:614857
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Micropenis, Renal agenesis, Mitral regurgitation, Pu... ORPHA:2326
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Atrial septal defect, Cryptorchidism, Cleft palate, Micropenis, Hyperbilirubinemia,... ORPHA:163979
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Dist... OMIM:606482
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Abnormal megakaryocyte morphology, Dysplastic granulopoesis, Gra... ORPHA:75564
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Distal muscle weakness, Babinski sign, Abnormal pyramidal sign, Di... OMIM:602099
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morpho... ORPHA:99050
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Neonatal death, Truncus arteriosus OMIM:228940
Pseudoxanthoma Elasticum, Forme Fruste
High palate, Angina pectoris, Premature occlusive vascular stenosis, Medial calcification of medi... OMIM:177850
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... ORPHA:980
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Neutrophilia, Hemothorax, Hematuria, M... ORPHA:99827
Andersen-Tawil Syndrome
High palate, Abnormality of the dentition, Bidirectional ventricular ectopy, Hypoplasia of the ma... ORPHA:37553
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Ventricular septal defect, Pneumonia, Patellar dislocation, Abnormal heart morphol... ORPHA:353281
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Hepatomegaly, Increased variability in muscle fiber diameter, Skelet... ORPHA:17
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of anterior horn cells, Degen... OMIM:105400
Johnson Neuroectodermal Syndrome
Cleft palate, Micropenis, Retrognathia, Hypogonadotropic hypogonadism, Carious teeth, Ventricular... OMIM:147770
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur... OMIM:301830
Schimke Immunoosseous Dysplasia
Stroke, Short neck, Microdontia, Proteinuria, Pancytopenia, Transient ischemic attack, Abnormal T... OMIM:242900
Catel-Manzke Syndrome
High palate, Cleft upper lip, Joint dislocation, Cleft palate, Glossoptosis, Micrognathia, Short ... OMIM:616145
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616437
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Ataxia, Flexion contracture of finger, Truncal titubation, Axonal degeneration, Impaire... ORPHA:88628
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Machado-Joseph Disease Type 3
Supranuclear ophthalmoplegia, Progressive cerebellar ataxia, Babinski sign, Spasticity, Distal lo... ORPHA:276244
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Babinski s... ORPHA:204
Finnish Upper Limb-Onset Distal Myopathy
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Clumsiness, Joint contracture of ... ORPHA:399086
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Parkinsonism, Abnormal lower motor neuron morphology, Paralysis, M... OMIM:105500
Williams Syndrome
Cholelithiasis, Wide mouth, Stroke, Abnormal carotid artery morphology, Abnormality of the ankles... ORPHA:904
Generalized Arterial Calcification Of Infancy
Respiratory distress, Stroke, Medial calcification of medium-sized arteries, Aortic dissection, V... ORPHA:51608
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Splenomegaly, Cutis marmorata, Ventricular septal defect, Renal hypoplas... OMIM:616589
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Gray matter heterotopia, Secundum atrial septal defect, Cere... OMIM:617397
Autosomal Recessive Cutis Laxa Type 2, Classic Type
High palate, Prominent veins on trunk, Abnormal circulating apolipoprotein concentration, Failure... ORPHA:357074
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... OMIM:608030
Acquired Aneurysmal Subarachnoid Hemorrhage
Coma, ST segment depression, Cerebral hemorrhage, Leukocytosis, Left ventricular hypertrophy, Cer... ORPHA:90065
Adrenomyeloneuropathy
Female sexual dysfunction, Axonal degeneration, Babinski sign, Abnormality of peripheral nervous ... ORPHA:139399
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia, Premature o... OMIM:615889
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Hematochezia, Thrombocytopenia, Abnormal lung morphology, Gastrointestinal hemorrhage, Ab... ORPHA:464321
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Raynaud phenomenon, Hypertension, Weakness of facial muscul... ORPHA:247691
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Hypospadias, Sudden cardiac death, Optic atrophy, Dilated cardiomyopat... OMIM:610198
Scimitar Syndrome
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... ORPHA:185
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, ... OMIM:615415
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Respiratory insufficiency, Cerebellar hypoplasia, Patent ductus arteriosu... OMIM:616276
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Shoulder girdle muscle weakness, Exertional dyspnea, EMG: myopathic abnorm... ORPHA:263297
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency due to muscle weakness, Bulbar palsy, Progressive proximal muscle weakn... ORPHA:254875
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Heart murmur, Basilar artery calcification, Transient ischemi... ORPHA:365
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Digeorge Syndrome
High palate, Hydrocele testis, Cholelithiasis, Cleft palate, Ovarian cyst, Short philtrum, Thromb... OMIM:188400
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Parkinsonism, Astrocytosis, Abnormal lower motor neuro... ORPHA:100070
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Apnea, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate l... OMIM:619048
Galloway-Mowat Syndrome 3
High palate, Failure to thrive, Narrow mouth, Nephrotic syndrome, Hiatus hernia, Diffuse mesangia... OMIM:617729
Feingold Syndrome Type 1
Tricuspid atresia, Anal atresia, Duodenal atresia, Nephritis, Tricuspid stenosis, Micrognathia, A... ORPHA:391641
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity, Muscle weakness, Skel... OMIM:612069
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Craniofacioskeletal Syndrome
Hypocalcemia, Atrial septal defect, Cleft palate, Hypospadias, Short philtrum, Micrognathia, Cere... OMIM:300712
Acute Panmyelosis With Myelofibrosis
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Myelofibrosis, Abnormality of bo... ORPHA:86843
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... OMIM:600795
Infantile Refsum Disease
Failure to thrive, Ataxia, Short stature, Arrhythmia, Optic atrophy, Progressive muscle weakness,... ORPHA:772
Acrocardiofacial Syndrome
Cleft upper lip, Mitral stenosis, Anal atresia, Atrial septal defect, Hypoplasia of penis, Cleft ... ORPHA:2008
Distal Anoctaminopathy
Progressive proximal muscle weakness, Calf muscle pseudohypertrophy, Distal amyotrophy, Progressi... ORPHA:399096
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Stroke, Hepatomegaly, Elevate... ORPHA:97214
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Hepatomegaly, Cleft palate, Urachus fistula, Cor triatriatum, Splenomegaly, Recurren... OMIM:612541
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Alport Syndrome
Macular degeneration, Glomerular C3 deposition, Hematuria, Retinal flecks, Thickened glomerular b... ORPHA:63
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Polymicrogyria, Ventricular septal defect, Knee flexi... OMIM:603387
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Respiratory distress, Ethylm... ORPHA:26792
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Micropenis, Hypospadias, Dilated cardiomyopathy, Death in infancy, Simplifie... OMIM:618815
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Gowers sign, Left ventricular hypertrophy, Scapular winging, Ty... ORPHA:169186
Ogden Syndrome
High palate, Hydrocele testis, Apnea, Abnormality of the dentition, Short philtrum, Short neck, C... OMIM:300855
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Distal ... OMIM:605285
Stankiewicz-Isidor Syndrome
Micropenis, Retrognathia, Hypospadias, Micrognathia, Ureteral duplication, Ventricular septal def... OMIM:617516
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Proximal muscle weakness, Abnormal muscle fiber morphology, Kyphoscoliosis, Weak... ORPHA:1145
Rubinstein-Taybi Syndrome 1
High palate, Respiratory distress, Cleft palate, Premature thelarche, Ventricular septal defect, ... OMIM:180849
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Distal ... OMIM:606070
Distal Nebulin Myopathy
Slender build, Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalitie... ORPHA:399103
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Atrioventricular canal defect, Vegeta... OMIM:619534
Amyotrophy, Hereditary Neuralgic
Short stature, Axonal degeneration, Peripheral axonal degeneration, Brachial plexus neuropathy, M... OMIM:162100
Triosephosphate Isomerase Deficiency
Failure to thrive, Respiratory insufficiency due to muscle weakness, Kyphosis, Cerebral atrophy, ... OMIM:615512
1Q21.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Failure to thrive, Cryptorchidism, Long philtrum... ORPHA:250989
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Short neck, Ventricular septal defect, Horseshoe kidney, Abnormal ... ORPHA:508498
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Distal muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Di... OMIM:607641
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Distal muscle weakness, Peripheral axonal neuropathy, Distal sensory impairment, Difficulty walki... OMIM:613710
Apert Syndrome
Cleft palate, Craniosynostosis, Delayed eruption of teeth, Ventricular septal defect, Pyloric ste... OMIM:101200
Meacham Syndrome
Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Pulm... OMIM:608978
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... ORPHA:2041
Chilton-Okur-Chung Neurodevelopmental Syndrome
Wide mouth, Short philtrum, Limb hypertonia, Mandibular prognathia, Ankyloglossia, Agenesis of in... OMIM:619841
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Stroke, Vasculitis in the skin, Raynaud phenomenon, Macular edema, Hematuria, Retinal hemorrhage,... OMIM:192315
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Asthma, Hepatomegaly, Lymphopenia, Diffuse mesangial sclerosis, Spl... OMIM:102700
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Hematuria, Optic atrophy, Proteinuria, Abnormal myoc... ORPHA:324
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive, Stroke, Hepatomegaly, Coma, Splenomegaly, Hyperammonemia... ORPHA:79312
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Unsteady gait, Skeletal musc... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Axonal degeneration, Vocal cord paralysis, Peripheral axonal... OMIM:615490
Duchenne Muscular Dystrophy
Flexion contracture, Calf muscle hypertrophy, Scoliosis, Progressive muscle weakness, Waddling ga... ORPHA:98896
Lethal Congenital Contracture Syndrome 10
High palate, Torticollis, Narrow palate, Micrognathia, Hypoplasia of the thymus, Short neck, Long... OMIM:617022
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Apnea, Hepatomegaly, Polymicrogyria, Enlarged kidney, Elevated circulating creatinin... OMIM:608836
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Gliosis, Decreased nerve conduction velocity, Trophic limb changes, Ort... OMIM:118301
Heart And Brain Malformation Syndrome
Wide anterior fontanel, High, narrow palate, Everted lower lip vermilion, Limb hypertonia, Campto... OMIM:616920
Amyotrophic Lateral Sclerosis 9
Distal muscle weakness, Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy OMIM:611895
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Pul... ORPHA:567548
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Overriding aorta, Lon... ORPHA:477817
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Retinal arteriolar constriction, Diffuse mesangial sclerosis, Optic atrophy, ... OMIM:249660
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... ORPHA:353277
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Loss of ambulation, Respiratory insufficiency due to muscle weakness OMIM:615515
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Spasticity, Muscle weakness, Fasciculations, Skeletal muscle atrophy OMIM:614808
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia OMIM:614743
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Inability to walk, Weakness of facial musculature, Quadriceps musc... ORPHA:99948
Monosomy 18Q
High palate, Wide mouth, Short philtrum, Open mouth, Mandibular prognathia, Bilateral cryptorchid... ORPHA:1600
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Optic atrophy, Thickened glomerular basement membrane, Proteinuria, Pericarditis, W... OMIM:619487
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Loss of ambulation, Tongue fasciculations, Muscle weakness, Fascic... OMIM:613435
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Kyphosis, Inability to walk, Cerebral atrophy, Paucity of anterior horn motor ne... OMIM:611890
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Granulomatosis With Polyangiitis
Angina pectoris, Elevated circulating C-reactive protein concentration, Hematuria, Proteinuria, G... ORPHA:900
Distal Myotilinopathy
Multiple joint contractures, Progressive proximal muscle weakness, EMG: myopathic abnormalities, ... ORPHA:98911
Melas
Fluctuations in consciousness, Optic atrophy, Type I diabetes mellitus, Proteinuria, Proximal tub... ORPHA:550
Scorpion Envenomation
Stroke, Glycosuria, Myocarditis, Bundle branch block, Tachycardia, Arrhythmia, Erythema, Abnormal... ORPHA:466677
Myofibrillar Myopathy 10
Flexion contracture of finger, Left ventricular hypertrophy, EMG: myopathic abnormalities, Percus... OMIM:619040
Spinocerebellar Ataxia With Dysmorphism
Ataxia, Coarse hair, Babinski sign, Scoliosis, Cerebellar atrophy OMIM:271270
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Neurodegeneration, Fatig... ORPHA:803
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Difficulty walking, Achilles tendon cont... ORPHA:610
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations, Limb muscle weakness, Muscle weakness OMIM:619141
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Megaloblastic bone marrow, Pancytopenia, Thrombocytopenia ORPHA:859
Asbestos Intoxication
Reduced vital capacity, Ground-glass opacification, Reduced forced vital capacity, Hepatojugular ... ORPHA:2302
Neurodegeneration With Brain Iron Accumulation 6
Oromandibular dystonia, Bradykinesia, Tip-toe gait, Spastic paraparesis, Rigidity, Neurodegenerat... OMIM:615643
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Small for gestational age, Left ventricular hypertroph... OMIM:616733
Charge Syndrome
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Horseshoe kidney, Umbilical h... OMIM:214800
Mucopolysaccharidosis, Type Vii
Kyphosis, Hirsutism, Thick eyebrow, Macroglossia, Flexion contracture, Short stature, Chronic bro... OMIM:253220
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Decreased level of coenzyme Q10 in skeletal muscle, ... OMIM:607426
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Loss of ambulation, Female infertility, Short stature, Skeletal muscle autopha... OMIM:619518
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Stroke, Systol... ORPHA:99103
Fabry Disease
Angina pectoris, Airway obstruction, Angiokeratoma, Anemia, Left ventricular hypertrophy, Arrhyth... OMIM:301500
Lambert Syndrome
Ventricular septal defect, Branchial anomaly ORPHA:1296
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... OMIM:603965
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Hypoplastic tricuspid valve, Ventricular septal defect, Pancreatic hypoplas... ORPHA:2255
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Ventricular septal defect, Pneumonia, Increased circulating f... ORPHA:26793
Galloway-Mowat Syndrome 2, X-Linked
High palate, Nephrotic syndrome, Micrognathia, Polymicrogyria, Proteinuria, Glomerular sclerosis,... OMIM:301006
Charge Syndrome
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Delayed eruption of ... ORPHA:138
Multifocal Motor Neuropathy
Motor conduction block, Progressive muscle weakness, Limb muscle weakness, Weakness of long finge... ORPHA:641
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Prolonged bleed... OMIM:618280
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Decreased response to growth hormone stimulation test, Elevated circulating parathy... ORPHA:94089
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Cardiogenic Shock
Low pulse pressure, Myocardial infarction, Elevated circulating creatinine concentration, Low-out... ORPHA:97292
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Anal atresia, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Micro... OMIM:309801
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Small ... ORPHA:70589
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Distal muscle weakness, Scoliosis, Distal amyotrophy, Abnormal low... OMIM:611067
45,X/46,Xy Mixed Gonadal Dysgenesis
High palate, Streak ovary, Horseshoe kidney, Bilateral cryptorchidism, Prolonged QT interval, Cho... ORPHA:1772
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Impaired distal tactile sensation, Proximal muscle weakness in lower limbs, ... OMIM:607706
Aortic Arch Interruption
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... ORPHA:2299
Galloway-Mowat Syndrome 6
High palate, Wide mouth, Nephrotic syndrome, Cerebellar vermis atrophy, Decreased response to gro... OMIM:618347
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Muscular ventricular septal defect, Diaphragmatic eventration, Hypochromic m... ORPHA:66634
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, ... OMIM:617575
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Apnea, Hepatomegaly, Aminoaciduria, Cleft palate, Joint contracture of the han... OMIM:214110
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... ORPHA:276621
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Progressive... OMIM:605355
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Hypertension, A... OMIM:603278
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Ethylmalonic aciduria, Flexion contracture, Lethargy, Facial palsy, Cardiomyop... OMIM:201470
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Ethylene Glycol Poisoning
Gastritis, Hematuria, Decreased urine output, Atrial fibrillation, Prolonged QT interval, Renal t... ORPHA:31826
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... ORPHA:98902
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal muscle weakness, Distal amyotrophy, Tremor, Difficulty walking, Vocal cord paresis, Vocal ... OMIM:158580
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Cleft palate, Abnormal... ORPHA:1166
Oligomeganephronia
Decreased glomerular filtration rate, Optic disc coloboma, Elevated circulating creatinine concen... ORPHA:2260
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Reduced left ventricular ejection fraction, Decreased body weight, Flexion con... ORPHA:258
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total ab... OMIM:600001
3-Methylglutaconic Aciduria, Type Viii
Apnea, 3-Methylglutaconic aciduria, Death in infancy, Neutropenia, Respiratory failure, Bradycardia OMIM:617248
17Q24.2 Microdeletion Syndrome
Tooth malposition, Pulmonic stenosis, Micrognathia, Short philtrum, Short neck, Abnormality of th... ORPHA:529962
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Cerebellar hypoplasia, Polymicrogyria, Proteinur... OMIM:617730
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Atrial septal defect, High, narrow palate, Cleft palate, Malar flattening, Branchia... ORPHA:261330
Bardet-Biedl Syndrome 16
Respiratory distress, Retinal degeneration, Rod-cone dystrophy, Renal agenesis, Abnormality of th... OMIM:615993
Drug-Induced Lupus Erythematosus
Petechiae, Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, ... ORPHA:231111
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Diffuse mesangial sclerosis... OMIM:256300
Aplastic Anemia
Bone marrow hypocellularity, Aplastic anemia OMIM:609135
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Narrow mouth, Arteriovenous malformation, Genu varum, Hypoplasia of the zygomatic bone, Downturne... ORPHA:1110
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... OMIM:613237
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium morphology... ORPHA:567544
Cerebrotendinous Xanthomatosis
Paraparesis, Ataxia, Gliosis, Axonal degeneration, Babinski sign, Optic atrophy, Optic disc pallo... ORPHA:909
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Hepatomegaly, Abnormality of the shoulder girdle musculature, Low-output congest... ORPHA:565612
Thrombotic Thrombocytopenic Purpura
Stroke, Coma, Arrhythmia, Hematuria, Decreased serum creatinine, Confusion, Myocardial infarction... ORPHA:54057
Cardiac Diverticulum
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... ORPHA:1686
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Hyperinsulinemia, Abnormality of the dentition, Short neck, High urinary gonadotropi... ORPHA:99413
Mosaic Monosomy X
High palate, Hyperinsulinemia, Abnormality of the dentition, Short neck, High urinary gonadotropi... ORPHA:99228
Monosomy X
High palate, Hyperinsulinemia, Abnormality of the dentition, Short neck, High urinary gonadotropi... ORPHA:99226
Turner Syndrome
High palate, Hyperinsulinemia, Abnormality of the dentition, Short neck, High urinary gonadotropi... ORPHA:881
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension OMIM:607832
3C Syndrome
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Short neck, Aplasi... ORPHA:7
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Aminoaciduria, Elevated circulating creatine kinase concentration, Hypergl... OMIM:619386
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Neurodegeneration, Optic atrophy, Cerebellar atrophy OMIM:610951
Monosomy 22
High palate, Joint swelling, Micropenis, Retrognathia, Thin vermilion border, Hepatosplenomegaly,... ORPHA:96123
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Ileus, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Skel... OMIM:613327
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Miscarriage, Stroke, Coombs-positive hemolytic ... ORPHA:464343
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Pili torti, Ataxia, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or abs... ORPHA:2891
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Ground-glass opacification, Reticulonodula... ORPHA:79126
Familial Hyperaldosteronism Type Iii
Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Hypercalciuria, Adrenal hyper... ORPHA:251274
Long Qt Syndrome 16
Prolonged QTc interval, Patent ductus arteriosus after birth at term, T-wave alternans, Second de... OMIM:618782
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Histiocytoid Cardiomyopathy
Hepatomegaly, Cleft palate, Optic atrophy, Ventricular septal defect, Right bundle branch block, ... ORPHA:137675
Lujo Hemorrhagic Fever
Respiratory distress, Elevated circulating C-reactive protein concentration, Myocarditis, Rhiniti... ORPHA:319213
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, External ophthalmoplegia, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neu... OMIM:612319
Ogden Syndrome
Torticollis, Microretrognathia, High, narrow palate, Pulmonary artery stenosis, Cryptorchidism, D... ORPHA:276432
Galloway-Mowat Syndrome 8
Abnormal cerebellum morphology, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segme... OMIM:618349
Gaisböck Syndrome
Angina pectoris, Stroke, Gout, Increased circulating renin level, Myocardial infarction, Hyperuri... ORPHA:90041
Bronchogenic Cyst
Pulmonary cyst, Back pain, Abnormality of the diaphragm, Abnormal lumbar spine morphology, Abnorm... ORPHA:2357
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Proteinuria, Adrenal pheochromocytoma, Weight loss, Elevated urinary epinephrine, Cere... ORPHA:29072
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Kyphosis, Ataxia, Skeletal muscle hypertrophy, Scoliosis, Optic atrophy, Gait distur... ORPHA:99014
Dextrocardia
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the ureter,... ORPHA:1666
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, Ankle flexion contracture, Hepatomegaly, High, narrow pa... OMIM:608799
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Atrophy/Degeneration affecting the brainstem, Ventricular septal defect, Death in infancy,... OMIM:616277
Leptospirosis
Respiratory distress, Hepatomegaly, Pulmonary hemorrhage, Macular cotton wool spot, Pericarditis,... ORPHA:509
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Joint dislocation, Subdural hemorrhage, Retinal hemorrhage, Glutaric acid... ORPHA:25
Galloway-Mowat Syndrome 1
High palate, Wide mouth, Nephrotic syndrome, Hiatus hernia, Joint contracture of the hand, Diffus... OMIM:251300
Syndromic Diarrhea
Hepatomegaly, Gastritis, Ventricular septal defect, Abnormality of iron homeostasis, Abnormal hea... ORPHA:84064
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Babinski sign, Parkinsonism, Pr... OMIM:615911
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Giant Axonal Neuropathy
Proximal muscle weakness, Woolly hair, Distal muscle weakness, Babinski sign, Scoliosis, Falls, D... ORPHA:643
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... ORPHA:95434
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Peters-Plus Syndrome
Cleft palate, Craniosynostosis, Short neck, Ventricular septal defect, Hypoplasia of the maxilla,... OMIM:261540
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Congenital hypothyroidism, Podocyte foot process effacement, Protein... OMIM:619609
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Bulbar palsy, Gliosis, Progressive cerebellar ataxia, Abnormality of extrapyramidal ... ORPHA:275872
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Decreased nerve conduction velocity, Distal muscle weakness, Scoliosis, Foot dorsifl... OMIM:302802
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Flexion contracture, Short stature, Conjunctival telangiectasia, Neurodegeneration, Progr... OMIM:615919
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Atrioventricular canal defect, Micrognathia, Hypoplasia of the ... ORPHA:40366
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Abnormal motor neuron mo... DECIPHER:29
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, Astrocytosis, Gait disturbance, Frontotemporal cerebral atrophy... ORPHA:275864
Craniofaciofrontodigital Syndrome
Respiratory distress, Stroke, Anomalous branches of internal carotid artery, Ventricular septal d... ORPHA:363705
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormal pyramidal si... OMIM:617672
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Ketonuria, Stroke, Hyperammonemia, EMG: myopath... ORPHA:480864
Mucopolysaccharidosis Type 3
Ataxia, Coarse hair, Optic atrophy, Reduced left ventricular ejection fraction, Spasticity, Atrio... ORPHA:581
Trisomy 20P
Vertebral segmentation defect, Kyphosis, Low anterior hairline, Thick eyebrow, Abnormal autonomic... ORPHA:261318
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Myopathy, Myofibrillar, 4
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Myofibrillar myopathy, Progre... OMIM:609452
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Mandibular prognathia, Pachygyria, Stage 5 chronic kidney diseas... OMIM:617731
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect OMIM:615297
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Splenomegaly, Abnormal bleeding, Arrhythmia, Aplastic anemia, Hemolyti... ORPHA:398124
Simpson-Golabi-Behmel Syndrome
Wide mouth, Hepatomegaly, Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature, Sho... ORPHA:373
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Stroke, Tendon ru... ORPHA:85451
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal bleeding, Palpitations, Retinal hemorrhag... ORPHA:86839
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Cardiomyopathy, Renal insufficiency, Lethargy ORPHA:254857
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... OMIM:252320
Incontinentia Pigmenti
Telangiectasia of the skin, Hypodontia, Supernumerary nipple, Retinal vascular proliferation, Cam... ORPHA:464
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Abnormal autonomic nervous system physiology, Spastic paraparesis... OMIM:300894
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Foot dorsiflexor weakness, Focal segmental glomerulosclerosis, Proteinuria, Distal upper limb amy... OMIM:614455
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Stroke, Atrial septal defect, Paroxysmal atrial tachycardia, Retinal dystro... ORPHA:49827
Al Amyloidosis
Hepatomegaly, Renal interstitial amyloid deposits, Proteinuria, Postural hypotension with compens... ORPHA:85443
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... ORPHA:178400
Congenital Left Ventricular Aneurysm
Apnea, Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Cong... ORPHA:1055
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Holoprosencephaly
Short neck, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Ventricular septal defect, Media... ORPHA:2162
Mucopolysaccharidosis, Type Iiid
Hirsutism, Thoracic scoliosis, Thick eyebrow, Hypoplastic vertebral bodies, Macroglossia, Short s... OMIM:252940
Primary Pulmonary Hypoplasia
Failure to thrive, Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Hypoxemia, Microgn... ORPHA:2257
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Coma, Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration,... ORPHA:42
Perlman Syndrome
Long upper lip, Nephrogenic rest, Nephroblastomatosis, Congenital diaphragmatic hernia, Micrognat... OMIM:267000
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
High palate, Apnea, Flexion contracture, Tachycardia, Erythema, Retinal hemorrhage, Ventricular s... OMIM:614653
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... ORPHA:244
Homozygous Familial Hypercholesterolemia
Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... ORPHA:391665
Wild Type Attr Amyloidosis
Nephrotic syndrome, Hepatomegaly, Pulmonary edema, Orthostatic hypotension due to autonomic dysfu... ORPHA:330001
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Vascul... OMIM:617056
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Increased circulating surfactant protein level, Hematuria, Ground-glass opacificati... ORPHA:60025
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... OMIM:615244
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive, Hepatomegaly, Coma, Cerebellar hemorrhage, Hyperammonemi... OMIM:251000
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Joint contracture of th... OMIM:179613
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Arteriovenous malformation, Narrow palate, Thyroid carcinoma, Abnormal large int... ORPHA:109
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Coma, Hyperammonemia, Elevated circulating creat... OMIM:212138
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Atrial septal defect, Hepatomegaly, Respiratory insufficiency, ... ORPHA:90308
Paternal Uniparental Disomy Of Chromosome 1
Macular dystrophy, Episodic hemolytic anemia, Abnormal retinal morphology on macular OCT, Increas... ORPHA:251004
8Q24.3 Microdeletion Syndrome
Respiratory distress, Atrioventricular canal defect, Short neck, Congenital hip dislocation, Vent... ORPHA:508488
D-Glyceric Aciduria
Failure to thrive, Aminoaciduria, Micropenis, Optic nerve hypoplasia, Patent ductus arteriosus, N... OMIM:220120
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Optic atrophy, Gait d... ORPHA:391417
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Conge... OMIM:306955
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Abnormal mitral valve morphology, Abnormal pulmonary valve morphology, Crypt... ORPHA:500
Preeclampsia
Chronic kidney disease, Small for gestational age, Abnormality of the kidney, Elevated systolic b... ORPHA:275555
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Splenomegaly, Intestinal malrotation, Respiratory insufficiency, Short neck, Cystic... OMIM:269860
Propionic Acidemia
Failure to thrive, Apnea, Neutropenia, Hyperglycinuria, Hepatomegaly, Cerebellar hemorrhage, Hype... OMIM:606054
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Airway obstruction, Short neck, Heparan sulfate excretion in urine, Enlarge... ORPHA:505248
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Micrognathia, Sudden cardiac death, Tachycardia, Elevated circulating... OMIM:614921
Anti-Glomerular Basement Membrane Disease
Pulmonary infiltrates, Persistence of primary teeth, Respiratory insufficiency, Retinal detachmen... ORPHA:375
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:616501
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
X-Linked Dominant Chondrodysplasia Punctata
Kyphoscoliosis, Sparse eyebrow, Flexion contracture, Severe postnatal growth retardation, Short s... ORPHA:35173
Myopathy, Myosin Storage, Autosomal Recessive
High palate, Death in early adulthood, Right bundle branch block, Scapuloperoneal amyotrophy, Mus... OMIM:255160
Pierson Syndrome
Remnants of the hyaloid vascular system, Nephrotic syndrome, Diffuse mesangial sclerosis, Hypopro... OMIM:609049
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Hyper... ORPHA:563
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Hurler Syndrome
Angina pectoris, Hepatomegaly, Macroglossia, Everted lower lip vermilion, Splenomegaly, Retinopat... ORPHA:93473
Viss Syndrome
High palate, Tortuous cerebral arteries, Chronic gastritis, Celiac disease, Aortic tortuosity, Pu... OMIM:619472
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Rift Valley Fever
Melena, Miscarriage, Hematemesis, Abnormal bleeding, Macular edema, Retinal hemorrhage, Hematuria... ORPHA:319251
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Craniosynostosis, Ventricular septal defect, Double outlet right ventricle, Retrogn... OMIM:301056
Oculorenocerebellar Syndrome
Nephropathy, Retinal degeneration, Glomerular sclerosis OMIM:257970
Bohring-Opitz Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Apnea, Cleft palate, Optic atrophy, Urinary r... ORPHA:97297
Primary Lipodystrophy
Angina pectoris, Hyperlipidemia, Type II diabetes mellitus, Splenomegaly, Skeletal muscle hypertr... ORPHA:90970
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... ORPHA:57777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Elevated circul... OMIM:615351
Mitochondrial Complex I Deficiency, Nuclear Type 37
High palate, Failure to thrive, Respiratory distress, Hypospadias, Cerebellar atrophy, Pulmonary ... OMIM:619272
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, Hematuria, Enlarged ... ORPHA:730
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Sparse hair, Brittle hair, Short stature, Camptodactyly of finger, Coarse hair, Scolios... ORPHA:1883
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Limb hypertonia, Short neck, Ventricular sept... ORPHA:444072
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Cleft palate, Bidirectional ventricular ectopy, Hypoplasia of the maxilla, Prolonged... OMIM:170390
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Bacterial Toxic-Shock Syndrome
Respiratory distress, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumo... ORPHA:36234
Distal Tetrasomy 15Q
High palate, Hydrocele testis, Atrial septal defect, Flexion contracture, Craniosynostosis, Retro... ORPHA:314588
Juvenile Primary Lateral Sclerosis
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... ORPHA:247604
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elev... ORPHA:340
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Aortic valve stenosis, Retinopathy, Coarctation of aorta, Iris coloboma... ORPHA:2396
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Zygomycosis
Melena, Gastritis, Myocarditis, Hematochezia, Acute infectious pneumonia, Rhinorrhea, Gastrointes... ORPHA:73263
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... ORPHA:656
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Failure to thrive, Gray matter heterotopia, Atrial septal defect, Pachygyria, Unilateral renal ag... OMIM:620024
Cockayne Syndrome Type 1
Widely spaced primary teeth, Hepatomegaly, Progeroid facial appearance, Abnormality of the dentit... ORPHA:90321
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Coma, Hyperammonemia, Leukopenia, Respiratory insufficiency, Macrocytic anemia, Opt... ORPHA:27
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Maternally-Inherited Diabetes And Deafness
Malabsorption, Macular dystrophy, Type II diabetes mellitus, Abnormal circulating lipid concentra... ORPHA:225
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Respiratory insufficiency, Cerebellar atrophy, Hyperalaninemia, Bra... OMIM:614654
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta, Abnormal cardiac septum morphology OMIM:601612
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Small for gestational age, Respiratory insufficiency, Elevated circulating c... OMIM:615368
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Recurrent infections due to aspiration, Abnormal renal physiology,... OMIM:223900
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Farber Disease
Respiratory distress, Macular degeneration, Skeletal muscle atrophy, Lymphadenopathy, Joint swell... ORPHA:333
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... ORPHA:79444
Pauci-Immune Glomerulonephritis
Abnormality of the pulmonary vasculature, Nephrotic range proteinuria, Decreased glomerular filtr... ORPHA:93126
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Tooth agenesis, Midshaft hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:2863
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Eosinophilic Granulomatosis With Polyangiitis
Urticaria, Cutis marmorata, Hematuria, Myocarditis, Abnormal pleura morphology, Myocardial infarc... ORPHA:183
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Hiatus hernia, Tracheoesophageal fistula, Horseshoe kidney, Elbow dislocation, Peri... ORPHA:2538
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cerebral atrophy, Progressive proximal muscle weakness, Hyperkinetic movements, Truncal ataxia, C... ORPHA:369847
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Macroglossia, Large posterior fontanelle, Delayed cranial... ORPHA:95717
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Myopathy, Oligohydramnios, Cardiomyopathy, Cardiomegaly OMIM:617713
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Abnormal respiratory system... ORPHA:99106
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Meningococcal Meningitis
Petechiae, Stroke, Elevated circulating C-reactive protein concentration, Papilledema, Abnormalit... ORPHA:33475
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Splenomegaly, Hemophagocytosis, Pancytopenia OMIM:300635
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Loss of consciousness, Excessive i... ORPHA:276575
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Stroke, Subdural hemorrhage, Retinal degeneration, Delirium, Optic atrophy,... ORPHA:79282
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, He... ORPHA:49041
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Infantile Sialic Acid Storage Disease
High palate, Failure to thrive, Gingival overgrowth, Nephrotic syndrome, Hepatomegaly, Vacuolated... OMIM:269920
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Cerebral atrophy, Paralysis, Knee flexion contracture, Arthrogryposis multiplex ... OMIM:616286
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Clumsiness, Myoclonus, Scoliosis, Lower limb muscle weakness, Limb myoclonus, ... ORPHA:2590
Exercise-Induced Malignant Hyperthermia
Abnormal pulse pressure, Delirium, Prolonged QT interval, Abnormal T-wave, Abnormal bleeding, Ele... ORPHA:466650
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Distal Monosomy 15Q
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... ORPHA:1596
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism OMIM:600274
Amaurosis-Hypertrichosis Syndrome
Thick eyebrow, Coarse hair, Optic atrophy, Abnormal eyelash morphology, Synophrys ORPHA:1021
Wiskott-Aldrich Syndrome
Urticaria, Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Re... ORPHA:906
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... ORPHA:276580
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... OMIM:161900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Torsade de pointes, Ketonuria, Hyperammonemia, ... OMIM:616878
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Ataxia, Pulmonary infiltrates, Cystic p