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Gene: Gsk3b MGI:1861437

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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:
glycogen synthase kinase 3 beta
Synonyms:
8430431H08Rik,  7330414F15Rik,  GSK-3beta,  GSK3,  GSK-3

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 Gsk3b 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 Gsk3b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brugada Syndrome 2
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... OMIM:611777
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... OMIM:113900
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Atrial Fibrillation, Familial, 14
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval OMIM:615378
Acroosteolysis
Osteolytic defects of the phalanges of the toes, Osteolytic defects of the phalanges of the hand OMIM:102400
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Medial Condensing Osteitis Of The Clavicle
Patchy reduction of bone mineral density, Limited shoulder movement ORPHA:57196
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... OMIM:610193
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Long Qt Syndrome 10
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... OMIM:611819
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Progressive Familial Heart Block, Type Ii
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... OMIM:140400
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Foot acroosteolysis, Abnormal cortical bone morphology ORPHA:970
Hyaline Fibromatosis Syndrome
Osteolysis, Osteoporosis, Progressive flexion contractures, Osteopenia, Flexion contracture OMIM:228600
Atrial Standstill 1
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... OMIM:108770
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... OMIM:614049
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Cardiomyopathy, Dilated, 1U
Syncope, Severely reduced left ventricular ejection fraction, First degree atrioventricular block... OMIM:613694
Wolff-Parkinson-White Syndrome
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... OMIM:194200
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Long Qt Syndrome 14
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... OMIM:616247
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... OMIM:602086
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... OMIM:602087
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Long Qt Syndrome 11
Prolonged QTc interval, Syncope OMIM:611820
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Joint stiffness ORPHA:2028
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Rosaï-Dorfman Disease
Osteolysis ORPHA:158014
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Gnathodiaphyseal Dysplasia
Mandibular osteomyelitis, Thickened cortex of long bones, Osteopenia, Recurrent fractures ORPHA:53697
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Long Qt Syndrome 16
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans OMIM:618782
Brugada Syndrome 9
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope OMIM:616399
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis ORPHA:100024
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Hypoglycemia, Leucine-Induced
Hypoglycemia, Irritability, Hyperinsulinemic hypoglycemia OMIM:240800
Long Qt Syndrome 2
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613688
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, First degree atrioventricular block, Left bu... OMIM:613697
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia, Ventricular escape rhythm ORPHA:542306
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Jervell And Lange-Nielsen Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval OMIM:220400
Atrial Fibrillation, Familial, 9
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... OMIM:613980
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Gorham-Stout Disease
Patchy reduction of bone mineral density, Osteolysis, Pathologic fracture, Osteolysis involving b... ORPHA:73
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... OMIM:108950
Nathalie Syndrome
Abnormal EKG OMIM:255990
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan... ORPHA:263458
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Cardiomyopathy, Dilated, 1Oo
Reduced left ventricular ejection fraction, Second degree atrioventricular block, Premature ventr... OMIM:620247
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Long Qt Syndrome 6
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613693
Long Qt Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... OMIM:192500
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate ORPHA:2016
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Thickened cortex of bones, Joint stiffness, Arthritis ORPHA:564003
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Osteosarcoma
Osteolysis, Pathologic fracture ORPHA:668
Atrial Fibrillation, Familial, 3
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... OMIM:607554
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block OMIM:615616
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones OMIM:607634
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Atrial Septal Defect, Ostium Primum Type
Right bundle branch block, Pulmonary arterial hypertension, Third heart sound, Mitral regurgitati... ORPHA:99106
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Flattened epiphysis, Cleft hard palate, Knee flexion contracture, Dislocate... ORPHA:166016
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Synovitis, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids OMIM:609655
Brugada Syndrome 3
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... OMIM:611875
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Ramon Syndrome
Osteolysis ORPHA:3019
Uvula, Bifid
Bifid uvula OMIM:192100
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... OMIM:611528
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids ORPHA:50809
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Van Der Woude Syndrome 1
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit OMIM:119300
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Metacarpal osteolysis, Carpal osteolysis, Limitation of join... ORPHA:2774
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Ollier Disease
Osteolysis, Joint stiffness ORPHA:296
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Brugada Syndrome 7
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... OMIM:613120
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Sudden cardiac deat... OMIM:617047
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... OMIM:616249
Familial Progressive Cardiac Conduction Defect
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure ORPHA:871
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Multiple joint contractures, Neonatal death OMIM:611369
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Tenosynovial Giant Cell Tumor
Osteolysis, Joint stiffness, Limitation of joint mobility, Localized osteoporosis ORPHA:66627
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Sprengel Deformity
Cleft palate ORPHA:3181
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Long Qt Syndrome 12
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation OMIM:612955
Cleft Lip With Or Without Cleft Palate
Median cleft lip and palate, Median cleft lip, Non-midline cleft lip, Non-midline cleft palate, S... ORPHA:1991
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... ORPHA:45452
Caffey Disease
Calvarial hyperostosis, Cortical irregularity, Joint hypermobility, Periosteal thickening of long... OMIM:114000
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... OMIM:612347
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... OMIM:166600
Parc Syndrome
Cleft palate OMIM:600331
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation OMIM:600919
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Abnormal cortical bone morphology, Pathologic fracture ORPHA:166277
Desmoid Tumor
Osteolysis, Limitation of joint mobility ORPHA:873
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Palpitations, First degree atrioventricular block, Sudden cardiac death, Atriovent... OMIM:310300
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... OMIM:615441
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Short Qt Syndrome 1
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... OMIM:609620
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Supraventricular tachycardia, Atrioventricular block, Dilated cardiomyopathy, Hyp... OMIM:612158
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... OMIM:262400
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... ORPHA:411593
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Osteomalacia, Coarse metaphyseal trabecularization, Bone cyst, Recurrent fractures, A... ORPHA:93160
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Craniorachischisis
Anal atresia, Bifid sternum ORPHA:63260
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... OMIM:612877
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cranio-Osteoarthropathy
Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness, Arthritis ORPHA:1525
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... OMIM:147630
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Periosteal thickening of long... ORPHA:1310
Long Qt Syndrome 5
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... OMIM:613695
Classic Hodgkin Lymphoma
Osteolysis ORPHA:391
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Short Qt Syndrome 7
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation OMIM:620231
Dermatoosteolysis, Kirghizian Type
Osteolysis, Tarsal synostosis, Osteoarthritis ORPHA:1657
Brugada Syndrome 1
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... OMIM:601144
Maffucci Syndrome
Osteolysis, Recurrent fractures ORPHA:163634
Atrial Septal Defect, Sinus Venosus Type
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... ORPHA:99105
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Infantile Myofibromatosis
Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment ORPHA:1055
Cleft Soft Palate
Cleft soft palate OMIM:119570
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Abnormal circulating insulin concentration, Elevated circulating thyroid-st... ORPHA:171706
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Short hallux, No permanent dentition, Cleft soft palate, Sandal gap OMIM:216300
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancreas ORPHA:3032
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Cleft palate, Abnormal rib morphology, Hypoplastic distal segments of scapulae,... OMIM:602196
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Frank-Ter Haar Syndrome
Camptodactyly of finger, Osteolysis, Joint stiffness ORPHA:137834
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Osteomyelitis ORPHA:324964
Pyle Disease
Thin bony cortex, Limited elbow extension, Reduced bone mineral density OMIM:265900
Arthrogryposis, Distal, Type 1C
Pursed lips, High palate, Camptodactyly of finger, Camptodactyly of toe, Bifid uvula, Cleft lip, ... OMIM:619110
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Bifid distal phalanx of the... ORPHA:2669
Paget Disease Of Bone 2, Early-Onset
Osteolysis, Osteosclerosis of the ulna, Increased susceptibility to fractures, Sclerosis of skull... OMIM:602080
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Eiken Syndrome
Abnormal trabecular bone morphology, Limited elbow flexion, Delayed epiphyseal ossification, Thin... ORPHA:79106
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia... OMIM:262700
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Short distal phalanx of the... OMIM:256200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteolysis, Osteoporosis, Osteolysis involving bones of the lower limbs, Carpal osteolysis, Osteo... ORPHA:371428
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... OMIM:615344
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... OMIM:601419
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Osteolysis, Increased susceptibility to fractures, Pathologic fracture ORPHA:52430
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Aggressive behavior, Hyperinsulinemia ORPHA:329249
Van Der Woude Syndrome 2
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip OMIM:606713
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thi... OMIM:600785
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Cleft palate, Abnor... ORPHA:66637
Coffin-Lowry Syndrome
Open mouth, High palate, Bifid sternum, Pectus excavatum, Widely spaced teeth, Coxa valga, Short ... OMIM:303600
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Pectus excavatum, Osteoarthritis, Abnormal metacarpal morphology, Cleft palate, Pectus carinatum,... ORPHA:166100
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth, Multiple unerupted teeth, Crowded maxillary incisors OMIM:183300
Metatropic Dysplasia
Camptodactyly of finger, Joint stiffness, Abnormal cortical bone morphology, Abnormal enchondral ... ORPHA:2635
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture OMIM:620366
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Reduced left ventricular ejection fraction, Palpitations, Sudden cardiac death, R... OMIM:608751
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Periostitis, Osteopenia, Osteomyelitis, Fused cervical vertebrae OMIM:612852
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... OMIM:618447
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Re... ORPHA:276608
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Congenital Myopathy 5 With Cardiomyopathy
Arrhythmia, Severely reduced left ventricular ejection fraction, Sudden cardiac death, Congestive... OMIM:611705
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort... OMIM:600955
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Fetal Akinesia Deformation Sequence 4
High palate, Camptodactyly, Rocker bottom foot, Neonatal death, Prenatal death, 11 pairs of ribs,... OMIM:618393
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypoins... ORPHA:453533
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Glycogen Storage Disease Xv
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... OMIM:613507
Romano-Ward Syndrome
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... ORPHA:101016
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip... ORPHA:888
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... OMIM:609040
Mucopolysaccharidosis, Type Ix
Finger joint hypermobility, Bifid uvula, Hyperextensibility at wrists, Hyperextensibility at elbo... OMIM:601492
Orofaciodigital Syndrome Type 5
Abnormality of the philtrum, Postaxial foot polydactyly, Bifid uvula, Postaxial polysyndactyly of... ORPHA:2919
Mody
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Glycosuria, Abnormal oral gluc... ORPHA:552
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... ORPHA:324575
Osteogenesis Imperfecta, Type Xxii
Thin bony cortex, Reduced bone mineral density, Multiple prenatal fractures, Recurrent fractures OMIM:619795
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Desminopathy
Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Supraventricular arrhythmia, Conges... ORPHA:98909
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... OMIM:608758
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Osteolysis, Ankylosis ORPHA:659
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiom... OMIM:612422
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Syncope, Arrhythmia, ... OMIM:181350
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
Gamma-Heavy Chain Disease
Osteolysis, Rheumatoid arthritis ORPHA:100026
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Adducted Thumbs Syndrome
Craniosynostosis, High palate, High, narrow palate, Cleft palate, Velopharyngeal insufficiency, A... OMIM:201550
Proteus Syndrome
Calvarial hyperostosis, Thin bony cortex, Facial hyperostosis, Mandibular hyperostosis OMIM:176920
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft lip, Cleft palate ORPHA:1072
Long Qt Syndrome 3
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... OMIM:603830
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Pectus excavatum, Bifid uvula, Microdontia, Short sternum, Supernumer... OMIM:258850
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Anencephaly 2
Median cleft palate, Cleft maxillary alveolar ridge, Median cleft lip OMIM:619452
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures ORPHA:1486
Acropectorovertebral Dysplasia
Camptodactyly of finger, Short distal phalanx of finger, Pectus excavatum, Finger syndactyly, Syn... ORPHA:957
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Felty Syndrome
Limitation of joint mobility, Synovitis, Osteolysis, Arthritis ORPHA:47612
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Angioosteohypotrophic Syndrome
Thin bony cortex, Abnormal trabecular bone morphology ORPHA:75508
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Osteolysis, Arthritis ORPHA:220393
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... OMIM:618920
Arthrogryposis, Distal, Type 3
Down-sloping shoulders, Camptodactyly of finger, High palate, Camptodactyly of toe, Congenital hi... OMIM:114300
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Short distal phalanx of finger, Submucous cleft hard palate, Short 4th m... ORPHA:3201
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Coffin-Siris Syndrome 11
Esophageal atresia, High palate, Bifid uvula, Downturned corners of mouth, Small hand, Cleft soft... OMIM:618779
Aggressive Systemic Mastocytosis
Osteoporosis, Osteolysis, Pathologic fracture ORPHA:98850
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolysis, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges... ORPHA:90153
Cleft Lip/Palate
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... ORPHA:199306
Sapho Syndrome
Craniofacial osteosclerosis, Osteolysis, Enthesitis, Hyperostosis, Arthritis, Osteomyelitis, Recu... ORPHA:793
Nestor-Guillermo Progeria Syndrome
Osteolysis, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phalanges of ... OMIM:614008
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Pathologic fracture, Osteoarthritis, Osteopenia ORPHA:77259
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or... ORPHA:276580
Pachydermoperiostosis
Osteolysis, Abnormal cortical bone morphology, Osteoporosis, Arthritis, Osteomyelitis, Limitation... ORPHA:2796
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Fibrous Dysplasia Of Bone
Rickets, Patchy reduction of bone mineral density, Osteolysis, Fibrous dysplasia of the bones, Pa... ORPHA:249
Insulinoma
Pituitary prolactin cell adenoma, Transient global amnesia, Anxiety, Fasting hyperinsulinemia, Re... ORPHA:97279
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Camptodactyly, Death in adolescence, Neonatal death, Stillbirth, Short long ... OMIM:619751
Obesity Due To Sim1 Deficiency
Cognitive impairment, Glucose intolerance, Memory impairment, Hyperinsulinemia ORPHA:369873
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Hip dysplasia, Abnormal metaphysis morphology, Irregular iliac cres... ORPHA:93316
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Osteolysis, Osteolytic defects of the distal phalanges... ORPHA:90154
Chromomycosis
Osteolysis, Ankylosis ORPHA:182
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog... ORPHA:293964
Congenital Myopathy 24
Cardiomyopathy, First degree atrioventricular block OMIM:617336
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate OMIM:120433
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, First degree atrioventricula... OMIM:115197
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Dysosteosclerosis
Oligodontia, Increased susceptibility to fractures, Diaphyseal thickening, Short sternum, Prematu... OMIM:224300
Osteopetrosis, Autosomal Recessive 2
Diaphyseal sclerosis, Osteopetrosis, Osteomyelitis, Recurrent fractures, Cranial hyperostosis, Ma... OMIM:259710
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... OMIM:615962
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Mandibular osteomyelitis, Multiple bony cystic lesions, Abnormal trabecu... ORPHA:83451
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... OMIM:601494
Robinow Syndrome, Autosomal Dominant 2
Oligodontia, Abnormality of the dentition, Camptodactyly, Short distal phalanx of finger, Calvari... OMIM:616331
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concent... OMIM:620211
Orofaciodigital Syndrome Xix
High palate, Postaxial foot polydactyly, Type A brachydactyly, Accessory oral frenulum, Microdont... OMIM:620107
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate, Sca... OMIM:619122
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... OMIM:163800
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Pierre-Robin s... OMIM:192445
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Bamforth-Lazarus Syndrome
Cleft palate OMIM:241850
Craniosynostosis 2
Craniosynostosis, Bicoronal synostosis, Unicoronal synostosis, Supernumerary tooth, Cleft soft pa... OMIM:604757
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemia, Hypoglycemic... ORPHA:276575
Cerebrocostomandibular Syndrome
Cleft palate, Carious teeth, 11 pairs of ribs, Anal stenosis, 10 pairs of ribs, Bell-shaped thora... OMIM:117650
Gitelman Syndrome
Raynaud phenomenon, Abnormal T-wave, Syncope, Palpitations, Low-to-normal blood pressure, Promine... ORPHA:358
Diprosopus
Non-midline cleft lip, Cleft palate ORPHA:1681
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Danon Disease
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... OMIM:300257
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Robinow Syndrome, Autosomal Recessive 2
Clinodactyly, Camptodactyly, Abnormality of the dentition, Broad thumb, Long philtrum, Absent uvu... OMIM:618529
Orofaciodigital Syndrome Type 10
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... ORPHA:2756
Obesity Due To Leptin Receptor Gene Deficiency
Emotional lability, Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, De... ORPHA:179494
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Joint laxity, Recurrent fractures, Thin bony cortex, Joint hypermobility OMIM:617952
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Angina pectoris, Restrictiv... ORPHA:85451
Microphthalmia, Syndromic 12
Intestinal malrotation, Neonatal death, Cleft palate OMIM:615524
Papillon-Lefèvre Syndrome
Osteolysis ORPHA:678
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... OMIM:600081
Mixed Connective Tissue Disease
Osteolysis, Joint stiffness, Arthritis ORPHA:809
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Broad long bones, Hypoplastic iliac wing, Cleft palate, Stillbirth, ... OMIM:200610
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Abnormal circulating adr... OMIM:262600
Oculofaciocardiodental Syndrome
Oligodontia, Abnormality of the dentition, Tooth malposition, Abnormal palate morphology, Short t... ORPHA:2712
Thanatophoric Dysplasia, Type Ii
Hypoplastic ilia, Short greater sciatic notch, Short ribs, Neonatal death, Metaphyseal irregulari... OMIM:187601
Schneckenbecken Dysplasia
Thoracic hypoplasia, Lateral clavicle hook, Flat acetabular roof, Short ribs, Advanced ossificati... OMIM:269250
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Abnormal liver parenc... ORPHA:64743
Limb-Mammary Syndrome
Camptodactyly, Hallux valgus, Bifid uvula, Syndactyly, Cleft palate, Hypodontia, Joint contractur... OMIM:603543
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Pectus excavatum, Rocker bottom foot, Cutaneous finger syndactyly... OMIM:606851
Tenorio Syndrome
Emotional lability, Hypoinsulinemia, Anxiety, Hypoglycemia OMIM:616260
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone tra... OMIM:300554
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Abnormal metaphysis morphology, Bifid uvula, Asymmetry of the tho... ORPHA:2780
Citrullinemia, Type Ii, Adult-Onset
Hepatocellular carcinoma, Pancreatitis, Elevated circulating alanine aminotransferase concentrati... OMIM:603471
Heart Block, Congenital
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Absent atrioventricular node, Atria... OMIM:234700
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Amish Lethal Microcephaly
Osteoporosis, Death in infancy, Decreased skull ossification, Limitation of joint mobility, Cleft... ORPHA:99742
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Broad thumb, Smooth philtrum, Cleft soft palate, Brachydactyly OMIM:614526
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Familial Dysautonomia
Osteolysis, Recurrent fractures ORPHA:1764
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lower limbs, Ost... ORPHA:464321
Complete Atrioventricular Septal Defect
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... ORPHA:1329
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Mitral regurgitation, Systolic heart murmur, Right ventricular f... ORPHA:99103
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71526
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Faciocardiomelic Dysplasia, Lethal
Short thumb, Hypoplasia of the radius, Neonatal death, Narrow mouth, Short 5th finger, Microgloss... OMIM:227270
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft lip, Cleft palate ORPHA:2476
Porphyria, Congenital Erythropoietic
Osteopenia, Osteolysis, Joint contracture of the hand, Pathologic fracture OMIM:263700
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Developmental And Epileptic Encephalopathy 101
Bradycardia, Third degree atrioventricular block OMIM:619814
Orofaciodigital Syndrome Type 3
Postaxial foot polydactyly, Abnormality of the dentition, Pectus excavatum, Irregular dentition, ... ORPHA:2752
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pr... OMIM:601005
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Calvarial osteosclerosis, ... OMIM:259700
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia, Irritability ORPHA:2089
Hyperinsulinism Due To Ucp2 Deficiency
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Hypog... ORPHA:276556
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Wide anterior fontanel, Osteopenia ORPHA:85184
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur... OMIM:241530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Kaposiform Lymphangiomatosis
Osteolysis, Fractures of the long bones ORPHA:464329
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... OMIM:261740
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Submucous cleft hard palate, Syndactyly, Cleft palate, Clinodactyly of the 5th finger, Short femo... OMIM:614701
Obsolete: Early-Onset Schizophrenia
Emotional lability, Abnormal emotion/affect behavior, Suicidal ideation, Cognitive impairment, Un... ORPHA:96369
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia OMIM:616033
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Ichthyosis, Congenital, Autosomal Recessive 4B
Short finger, Death in infancy, Neonatal death, Everted lower lip vermilion OMIM:242500
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Multiple Synostoses Syndrome 1
Lower limb undergrowth, Carpal synostosis, Absent distal phalanges, Short hallux, Asymmetry of th... OMIM:186500
H Syndrome
Camptodactyly, Osteolysis, Recurrent fractures ORPHA:168569
Cardiogenic Shock
Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... ORPHA:97292
Erdheim-Chester Disease
Increased bone mineral density, Osteolysis, Osteomyelitis ORPHA:35687
Steinert Myotonic Dystrophy
Prolonged QRS complex, Left ventricular systolic dysfunction, Supraventricular tachycardia, Prolo... ORPHA:273
Stickler Syndrome, Type I
Pectus excavatum, Joint stiffness, Bifid uvula, Abnormal femoral epiphysis morphology, Submucous ... OMIM:108300
W Syndrome
Camptodactyly, Broad uvula, Radial bowing, Upper lip pit, Submucous cleft hard palate, Metatarsus... ORPHA:2804
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... ORPHA:1677
Brachycephaly, Trichomegaly, And Developmental Delay
Open mouth, High palate, Bifid uvula, Submucous cleft hard palate, Supernumerary tooth, Thin verm... OMIM:617412
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Oral mucosal blisters, Neonatal death, Esophageal stenosis OMIM:619817
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, High palate, Submucous cleft hard palate, Osteopenia, Epiphyseal stippling, Flexio... OMIM:222765
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the upper limbs, Flexion contracture, Camptodactyly, Osteolysis inv... ORPHA:88630
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Atrioventricular b... ORPHA:398124
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... ORPHA:2041
Loeys-Dietz Syndrome 5
High palate, Pectus excavatum, Bilateral coxa valga, Bifid uvula, Flexion contracture of toe, Hia... OMIM:615582
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat... ORPHA:79644
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of pr... ORPHA:85188
Ebstein Anomaly
Right bundle branch block, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, At... OMIM:224700
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Impaired glucose tolerance, Increased s... OMIM:615363
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Submucous cleft hard palate, Bifid uvula OMIM:619239
Melnick-Needles Syndrome
Craniofacial hyperostosis, Abnormal cortical bone morphology, Joint hyperflexibility, Osteolytic ... ORPHA:2484
Encephalocraniocutaneous Lipomatosis
Bone cyst, Osteolysis, Craniofacial hyperostosis ORPHA:2396
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Cognitive impairment, Hypoglycemia ORPHA:364
Alpha-Mannosidosis, Infantile Form
Craniosynostosis, Osteolysis, Joint stiffness, Cortical thickening of long bone diaphyses, Osteop... ORPHA:309282
Bdv Syndrome
Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreas... OMIM:619326
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Solitary Fibrous Tumor
Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia ORPHA:2126
Chikungunya
Osteolysis, Joint stiffness, Enthesitis, Stiff interphalangeal joints, Arthritis, Periostitis, Sy... ORPHA:324625
Lymphatic Malformation 5
Cleft palate OMIM:153200
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... OMIM:615745
Pituitary Hormone Deficiency, Combined, 6
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Decreased circulating fo... OMIM:613986
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Microcephaly 30, Primary, Autosomal Recessive
Pierre-Robin sequence, Cleft soft palate, Thin upper lip vermilion, Clinodactyly of the 5th finger OMIM:620183
Dent Disease 1
Rickets, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractur... OMIM:300009
Schilbach-Rott Syndrome
Bifid uvula, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Narrow mouth, Clinodac... OMIM:164220
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Flexion contracture, Bone cyst, Osteolysis, Hip contracture ORPHA:3042
Birk-Barel Syndrome
High palate, Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, Short philtrum OMIM:612292
Myhre Syndrome
Craniofacial hyperostosis, Abnormal lip morphology, Joint stiffness, Bifid uvula, Unilateral clef... ORPHA:2588
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... OMIM:604367
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... ORPHA:66529
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased serum estrad... ORPHA:66628
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... OMIM:264700
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Vitamin D-Dependent Rickets, Type 2A
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... OMIM:277440
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Abnormal cortical bone morphology, Bifid uvula, Facial hyperostosis, Cleft palat... ORPHA:2658
Gaucher Disease
Increased bone mineral density, Osteolysis, Joint stiffness, Osteoarthritis, Osteopenia, Recurren... ORPHA:355
Cryptococcosis
Osteolysis, Osteomyelitis ORPHA:1546
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, High palate, Taurodontia, Dental malocclusion, Long p... ORPHA:2563
Incontinentia Pigmenti
Camptodactyly of finger, Osteolysis, Spina bifida occulta, Eosinophilia ORPHA:464
Hepatoerythropoietic Porphyria
Osteoporosis, Osteolysis, Osteopenia ORPHA:95159
Hajdu-Cheney Syndrome
Osteolysis, Osteoporosis, Osteopenia, Coarse metaphyseal trabecularization, Decreased skull ossif... ORPHA:955
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Polysyndactyly of hallux, Short tibia, Cleft palate, Preaxial foot polydact... ORPHA:2751
Buratti-Harel Syndrome
High palate, Bifid uvula, Submucous cleft hard palate, Broad thumb, Velopharyngeal insufficiency,... OMIM:619314
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Progr... ORPHA:263455
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Camptodactyly of finger, Abnormality of the dentition, Submucous cleft hard pal... ORPHA:178303
Familial Renal Glucosuria
Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance, Hypergly... ORPHA:69076
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Mitral regurgitation, Arrhythmia, Palpitations, Aortic re... ORPHA:75566
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae, Increased suscept... ORPHA:289157
Tarp Syndrome
High palate, Pectus excavatum, Postaxial polydactyly, Hypoplasia of the radius, Rocker bottom foo... OMIM:311900
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Arrhythmia, Palpitations, Cardiomyopathy, Ventricu... ORPHA:263297
Multicentric Osteolysis, Nodulosis, And Arthropathy
Camptodactyly of toe, Metatarsal osteolysis, Metacarpal osteolysis, Wrist flexion contracture, Os... OMIM:259600
Peripartum Cardiomyopathy
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... ORPHA:563
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, High, narrow palate ORPHA:209908
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Progressive clavicular acroosteolysis, Acroosteolysis of distal phalanges (f... OMIM:608612
Occipital Horn Syndrome
Rickets, Osteolysis, Osteoporosis, Synostosis of joints, Osteopenia, Osteomalacia, Joint hyperfle... ORPHA:198
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Everted lower lip vermilion, Downturned corners of... ORPHA:884
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Myocardial infarction, Congestive heart failure, Orthostatic hypotensio... ORPHA:330001
Branchiogenic-Deafness Syndrome
Branchial cyst, Short distal phalanx of finger, Submucous cleft hard palate, Branchial fistula OMIM:609166
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology OMIM:614886
Severe Neurodegenerative Syndrome With Lipodystrophy
Cognitive impairment, Insulin resistance, Hyperinsulinemia, Progressive psychomotor deterioration ORPHA:363400
Momo Syndrome
High palate, Taurodontia, Dental malocclusion, Long philtrum, Smooth philtrum, Delayed eruption o... OMIM:157980
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification OMIM:618476
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Microcephaly-Micromelia Syndrome
Craniosynostosis, Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Cl... OMIM:251230
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... ORPHA:98855
Retinitis Pigmentosa
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Long clavicles, Metaphyseal cupping, Multiple pren... OMIM:215140
Mandibuloacral Dysplasia With Type A Lipodystrophy
Camptodactyly, Acroosteolysis of distal phalanges (feet), Joint stiffness, Progressive clavicular... OMIM:248370
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced left ventricular ejection fraction, Abnormal pulse pressure, Sudden card... ORPHA:3093
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... ORPHA:98853
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Increased circulating ACTH level, Abnormal circulating renin, Abnormal circulating aldosterone, C... OMIM:614736
Chime Syndrome
Osteolysis ORPHA:3474
Galactokinase Deficiency
Psychomotor deterioration, Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:79237
Campomelic Dysplasia
Shortening of all phalanges of the toes, Hip dislocation, Thin ribs, Cleft palate, Narrow mouth, ... OMIM:114290
Native American Myopathy
High palate, Camptodactyly, Bifid uvula, Cleft palate, Downturned corners of mouth, Submucous cle... ORPHA:168572
Hydrolethalus
Bifid uvula, Unilateral cleft lip, Submucous cleft hard palate, Cleft palate, Postaxial hand poly... ORPHA:2189
Histiocytoid Cardiomyopathy
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Supraventricu... ORPHA:137675
Bangstad Syndrome
Primary gonadal insufficiency, Increased circulating cortisol level, Abnormality of the parathyro... ORPHA:1227
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular tachycardia, Tachycardia, Arrhythmia, Atrioventricular block, Dilated cardiomyopathy,... ORPHA:26793
Mosaic Variegated Aneuploidy Syndrome
Osteolysis ORPHA:1052
Naxos Disease
Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, Palpitations, Arrhythmia, Sudde... OMIM:601214
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Submucous cleft hard palate, Dental crowding, Protruding tongue, Thick vermilion bor... OMIM:618106
Coccidioidomycosis
Osteolysis, Osteomyelitis, Arthritis, Eosinophilia ORPHA:228123
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Hypertrophic cardiomyo... ORPHA:98863
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Widely spaced teeth, Submucous cleft hard palate, Finger syndactyly, Cleft palate,... ORPHA:1071
Epidermolysis Bullosa, Lethal Acantholytic
Widely spaced toes, Syndactyly, Neonatal death, Natal tooth, Sandal gap, Tapered distal phalanges... OMIM:609638
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... ORPHA:216694
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Enthesitis, Hypopho... ORPHA:289176
Atelosteogenesis, Type I
Clubbing, Long clavicles, Short metatarsal, Cleft palate, Multinucleated giant chondrocytes in ep... OMIM:108720
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Short ribs, Short tibia, Thin ribs, Hypoplastic acetabul... OMIM:620076
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short finger, Oligodontia, High palate, Aplasia of the distal phalanx of the 5th finger, Short di... OMIM:608670
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Horizontal ribs, Lateral clavicle hook, Long thorax, Cleft lip, Preaxial polydactyl... OMIM:617925
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Congenital Erythropoietic Porphyria
Osteoporosis, Osteolysis, Osteopenia ORPHA:79277
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Anteriorly placed anus, Submucous cleft hard palate, High, narrow palate, Long philt... OMIM:612863
Estrogen Resistance Syndrome
Hyperinsulinemia, Glucose intolerance, Abnormality of the adrenal glands, Absence of secondary se... ORPHA:785
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Abnormal cortical bone morphology, Osteoporosis, Knee flexion contractur... ORPHA:3206
Isotretinoin Embryopathy-Like Syndrome
Cleft palate OMIM:243440
Gm1-Gangliosidosis, Type Ii
Thin bony cortex, Joint stiffness OMIM:230600
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Mitral regurgitation, First degree atrioventricular block, Aortic regurgitation, Tricuspid regurg... OMIM:620066
Limb-Mammary Syndrome
Oligodactyly, Bifid uvula, Cleft lip, Cleft hard palate, Syndactyly, Cleft palate, 3-4 finger cut... ORPHA:69085
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Camptodactyly of finger, Patellar aplasia, Bifid uvula, Submucous cleft hard pa... ORPHA:2554
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Cleft hard palate, Submucous cleft hard palate, Dental crowding, Short femur, Narrow... OMIM:300990
Kearns-Sayre Syndrome
Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Insulin-Resistance Syndrome Type B