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Gene: Dsp MGI:109611

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Gene Summary

Name:
desmoplakin
Synonyms:
5730453H04Rik,  2300002E22Rik,  rul,  DP

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal neural tube morphology Dspem1(IMPC)Mbp HET E9.5 0.00
abnormal lymph node morphology Dspem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Dspem1(IMPC)Mbp HOM   Early adult 0.00
abnormal neural tube morphology Dspem1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo turning Dspem1(IMPC)Mbp HET E9.5 0.00
abnormal midbrain development Dspem1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Dspem1(IMPC)Mbp HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Dspem1(IMPC)Mbp HOM   E15.5 0.00
abnormal neural tube closure Dspem1(IMPC)Mbp HET E9.5 0.00
enlarged lymph nodes Dspem1(IMPC)Mbp HET Early adult 0.00
abnormal embryo turning Dspem1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Dspem1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Dspem1(IMPC)Mbp HET E15.5 0.00

Download data as:  TSV  XLS

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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.

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MicroCT E9.5

Embryo reconstruction

9 Images

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Gross Morphology Embryo E9.5

Images

19 Images

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X-ray

XRay Images Whole Body Dorso Ventral

57 Images

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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Gross Morphology Embryo E14.5-E15.5

Images

6 Images

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Human diseases caused by Dsp mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dsp by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carvajal Syndrome
Woolly hair, Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis ORPHA:65282
Striate Palmoplantar Keratoderma
Abnormal hair morphology, Palmoplantar keratoderma, Abnormality of the nail ORPHA:50942
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Hyperkeratosis, Sync... OMIM:615821
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Congestive heart failure, Dilated cardi... OMIM:605676
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Cardiomegaly, Absent eyelashes, Acantholysis, Cleft palate, Impaired myocardial c... ORPHA:158687
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Palmoplantar keratoderma ORPHA:154
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma OMIM:612908
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency ORPHA:2032

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palmoplantar keratoderma, Palpit... OMIM:610476
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Naxos Disease
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... OMIM:601214
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Naxos Disease
Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear... ORPHA:34217
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Carvajal Syndrome
Woolly hair, Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis ORPHA:65282
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Striate Palmoplantar Keratoderma
Abnormal hair morphology, Palmoplantar keratoderma, Abnormality of the nail ORPHA:50942
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... ORPHA:2722
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Nathalie Syndrome
Abnormal EKG OMIM:255990
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Hyperkeratosis, Sync... OMIM:615821
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Kerion Celsi
Lymphadenopathy ORPHA:499
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Congestive heart failure, Dilated cardi... OMIM:605676
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia, Hirsutism ORPHA:228346
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... OMIM:617294
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse... ORPHA:401911
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... OMIM:613507
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Congestive heart failure, Bradycardia, Ventricular hypertrophy OMIM:619048
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Hyperkeratosis, Bradycardia OMIM:610768
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Alopecia totalis, Pericardial effusion, ... OMIM:618775
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Mitral valve prolapse, Fine hair, High palate, Sparse hair OMIM:615278
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... ORPHA:263297
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of... ORPHA:90368
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Cardiomegaly, Absent eyelashes, Acantholysis, Cleft palate, Impaired myocardial c... ORPHA:158687
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti OMIM:607903
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Thick eyebrow OMIM:606242
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block, Long eyebrows OMIM:614407
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First d... OMIM:115197
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Cardiofaciocutaneous Syndrome 3
Curly hair, Ventricular septal defect, Hyperkeratosis, Pulmonic stenosis, Atrial septal defect, H... OMIM:615279
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Aredyld
Generalized hypotrichosis OMIM:207780
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Cardiomegaly OMIM:613576
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft palate, Palmoplantar keratoderma,... ORPHA:2890
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he... ORPHA:1329
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... OMIM:224750
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail banding OMIM:619692
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Muscle Filaminopathy
Right bundle branch block, Cardiomyopathy, Left ventricular hypertrophy, Left ventricular diastol... ORPHA:171445
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair OMIM:618625
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Schöpf-Schulz-Passarge Syndrome
Alopecia, Palmoplantar keratoderma, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the... ORPHA:50944
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna... ORPHA:2251
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Prematu... OMIM:212138
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia ORPHA:2574
Congenital Sialidosis Type 2
Abnormal EKG, Protruding tongue, Abnormal heart morphology, Telangiectasia, Generalized hypertric... ORPHA:93400
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... OMIM:129500
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction ORPHA:206559
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair, Follicular hyperkeratosis OMIM:618546
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... ORPHA:860
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Distichiasis, Ventricular septal defect, Sinus bradycardia OMIM:126320
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Noonan Syndrome 5
Curly hair, Atrial septal defect, Sparse eyebrow, Fine hair, Arrhythmia, Pulmonic stenosis, Small... OMIM:611553
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Anal atresia OMIM:227260
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Acitretin/Etretinate Embryopathy
Conotruncal defect, High palate, Third degree atrioventricular block, Bradycardia, Atrioventricul... ORPHA:40366
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Arrhythmia, Hypoplastic nipples, Small nail OMIM:273400
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Ventricular septal hypertrophy, Palmoplantar hyperk... OMIM:615280
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Fragile nails, Small ... OMIM:261990
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Hypertension, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, High, narrow palate, Mitral valve prolapse, Low posterior... ORPHA:2183
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Ventricular septal defect, Abnormality of hair texture, Concave n... OMIM:234050
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Noonan Syndrome 8
Curly hair, Ventricular septal defect, Hyperkeratosis, Mitral regurgitation, Pulmonic stenosis, A... OMIM:615355
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Hirsutism OMIM:252920
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Spar... OMIM:602400
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... OMIM:194300
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Pyloric stenosis, Ileus, Bradycardia, Hi... OMIM:613327
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... ORPHA:85443
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar hyperkeratosi... OMIM:167210
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Leopard Syndrome 2
Curly hair, Hypertrophic cardiomyopathy OMIM:611554
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... OMIM:619208
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Lessel-Kubisch Syndrome
Sparse pubic hair, Hypertension, Premature graying of hair OMIM:618681
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair ORPHA:79402
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia ORPHA:95717
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Ventricular septal defect, Concave nail, Abnormal... ORPHA:3071
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Myotonic Dystrophy 2
Tachycardia, Frontal balding, Premature ventricular contraction, Right bundle branch block, Palpi... OMIM:602668
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Ogden Syndrome
Ventricular septal defect, High, narrow palate, Fine hair, Cardiogenic shock, Arrhythmia, Aplasia... ORPHA:276432
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... ORPHA:2309
Noonan Syndrome 6
Curly hair, Long eyebrows, Low posterior hairline, Pulmonic stenosis, Sparse hair, Hypertrophic c... OMIM:613224
Illum Syndrome
Bradycardia OMIM:208155
Leopard Syndrome 3
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Abnormal aortic val... OMIM:613707
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Pachyonychia Congenita 1
Palmoplantar hyperkeratosis, Nail dystrophy, Follicular hyperkeratosis, Oral leukoplakia, Onychog... OMIM:167200
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes ORPHA:3363
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula... OMIM:613102
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Eosinophilic infiltration of the esophagus, Malabsorption, Acantholysis, Multiple muscular ventri... OMIM:615508
Hereditary Mucoepithelial Dysplasia
Alopecia, Tracheoesophageal fistula, Furrowed tongue, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1839
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Cardiomyopathy, Abnormal left ventricular function ORPHA:98912
Noonan Syndrome 9
Sparse eyebrow, Curly hair, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Mucopolysaccharidosis, Type Iiia
Synophrys, Coarse hair, Hirsutism, Asymmetric septal hypertrophy OMIM:252900
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cor pulmonale, Furrowed tongue, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Fo... OMIM:158310
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair ORPHA:1883
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Bazex-Dupre-Christol Syndrome
Furrowed tongue, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Fol... OMIM:616295
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok... OMIM:614594
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Palmoplantar keratoderma, Sparse hair, Sp... OMIM:618535
Filippi Syndrome
Sparse hair, Frontal hirsutism, Ventricular septal defect, Hypertrichosis OMIM:272440
Cardiocranial Syndrome, Pfeiffer Type
Abnormal hair whorl, High, narrow palate, Abnormal heart morphology, Sparse hair, Bifid uvula ORPHA:2872
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Alopecia, Angina pectoris, Telang... ORPHA:93672
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Acrogeria
Telangiectasia of the skin, Fine hair ORPHA:2500
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Dextrocardia
Abnormal EKG, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal heart morpho... ORPHA:1666
Mucopolysaccharidosis, Type Iiic
Synophrys, Asymmetric septal hypertrophy, Coarse hair, Hirsutism, Hypertrichosis OMIM:252930
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, Alope... OMIM:604536
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera... ORPHA:2221
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Craniofrontonasal Dysplasia
Abnormality of hair texture, Widow's peak, Low posterior hairline, High palate, Ridged fingernail... ORPHA:1520
Even-Plus Syndrome
Atrial septal defect, Highly arched eyebrow, Synophrys, High palate, Sparse hair, Patent foramen ... OMIM:616854
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Dilated cardiomyopathy, Palmoplantar hyperkeratosis, Premature graying of h... OMIM:613989
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Prolonged QTc interval, Increased QRS voltage OMIM:619040
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Fg Syndrome 3
Sparse hair, Pyloric stenosis, Frontal upsweep of hair, Fine hair OMIM:300406
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring alopecia of sc... ORPHA:59303
Trichohepatoenteric Syndrome 2
Villous atrophy, Brittle hair, Uncombable hair, Colitis, Sparse hair, Woolly hair, Trichorrhexis ... OMIM:614602
Atrophoderma Vermiculata
Heart block, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, High, narrow palate OMIM:273390
Congenital Short Bowel Syndrome
Sparse hair, Intestinal malrotation, Intestinal hypoplasia ORPHA:2301
Braddock-Carey Syndrome 1
Curly hair, Aortic valve prolapse, Ventricular septal defect, Cleft palate, Anteriorly placed anu... OMIM:619980
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Congenital Myopathy 22A, Classic
Synophrys, Tricuspid regurgitation, High palate, Bradycardia OMIM:620351
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Left atrial enlargement, Sparse eyebrow, Right bun... OMIM:614008
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Coarse hair, Nail dystrophy, Atrial septal defect ORPHA:75389
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck ORPHA:1131
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail, Palmoplantar hyperkeratosis OMIM:619209
Gand Syndrome
Sparse hair OMIM:615074
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Thin nail, Sparse e... OMIM:257980
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Tonne-Kalscheuer Syndrome
Concave nail, Velopharyngeal insufficiency, Abnormal heart morphology, Fine hair, Small nail OMIM:300978
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Atrial septal defect, Tricuspid regurgitation, Slow-growing hair, Ventricular septal ... OMIM:617506
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, High palate, Horizontal eyebrow, Fine hair OMIM:615828
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Telangiectasia, Fine hair, Hy... OMIM:601675
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... ORPHA:1807
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Agel Amyloidosis
Tongue atrophy, Xerostomia, Cardiomyopathy, Nail dystrophy, Sparse hair, Arrhythmia, Orthostatic ... ORPHA:85448
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Cleft palate, Atrial septal defect, Arrhythmia, Patent foramen ovale OMIM:619184
Menkes Disease
Intracranial hemorrhage, Alopecia, Brittle hair, Sparse hair OMIM:309400
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair ORPHA:1660
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... ORPHA:268
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair, High palate ORPHA:50812
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Abnormal cardiac septum morphology, First degree atrioventricular block ORPHA:589821
2Q32Q33 Microdeletion Syndrome
Sparse hair, High palate, Cleft palate, Fine hair ORPHA:251019
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Neonatal Lupus Erythematosus
Prolonged QT interval, Parakeratosis, Heart block, Dilated cardiomyopathy, Atrioventricular block... ORPHA:398124
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Cronkhite-Canada Syndrome
Intestinal polyposis, Alopecia, Abnormal fingernail morphology, Malabsorption, Hypoplastic toenai... ORPHA:2930
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension, Abnormal heart morphology ORPHA:391673
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, High, narrow palate, Lon... ORPHA:3051
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:242300
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia ORPHA:226313
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Noonan Syndrome 7
Curly hair, Low posterior hairline, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiom... OMIM:613706
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair ORPHA:3447
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, High palate, Bradycardia OMIM:619272
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... ORPHA:980
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage OMIM:617397
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Desbuquois Syndrome
Sparse hair, Ventricular septal defect, Abnormal eyelash morphology ORPHA:1425
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Noonan Syndrome 10
Curly hair, Mitral stenosis, Ventricular septal defect, Sparse eyebrow, Mitral valve prolapse, Hy... OMIM:616564
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia ORPHA:95716
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Nail dystrophy, Oral leukoplakia OMIM:616353
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Sparse eyebrow, Fine hair, Mitral valve prolapse, Sparse hair, Abnorma... ORPHA:444072
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, High palate, Myocardial infarction, Mitral valve prolapse OMIM:236200
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Hyperconvex nail, Aganglionic megacolon, Hypertension, At... OMIM:613870
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Hamamy Syndrome
Atrial septal defect, Prolonged QRS complex, Sparse eyelashes, Sparse eyebrow, Complete atriovent... OMIM:611174
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Furrowed tongue, Palmoplantar hyperkeratosis, Nail dystroph... ORPHA:140936
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... ORPHA:2963
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Hypertrophic cardiomyopathy, Brittle hair OMIM:618810
Noonan Syndrome 14
Aortic regurgitation, Curly hair, Sparse eyebrow, High, narrow palate, Low posterior hairline, Mi... OMIM:619745
Sheehan Syndrome
Orthostatic hypotension, Sparse axillary hair, Sparse pubic hair, Palpitations, Bradycardia, Brea... ORPHA:91355
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Velopharyngeal insuffi... OMIM:129400
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Macroglossia, Small nail OMIM:617396
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... ORPHA:137675
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck OMIM:615583
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N... ORPHA:79151
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... ORPHA:57777
Bohring-Opitz Syndrome
Cardiomegaly, Synophrys, Cleft palate, Abnormal cardiac septum morphology, Bradycardia, Hypertric... ORPHA:97297
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis, Anal atresia OMIM:119580
Noonan Syndrome 2
Curly hair, Mitral stenosis, Ventricular septal defect, Sparse eyebrow, Low posterior hairline, C... OMIM:605275
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, High palate, Hypertrichosis OMIM:618590
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Atrial septal defect, Sparse eyebrow, Synophrys, Sparse hair, Patent foramen ovale OMIM:620075
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Cardiofaciocutaneous Syndrome
Atrial septal defect, Brittle hair, Slow-growing hair, Abnormal heart valve morphology, Abnormal ... ORPHA:1340
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Palmar tel... ORPHA:69735
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Submucous cleft hard palate, Long eyelashes, High... OMIM:617412
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, High palate, Bradycardia OMIM:614653
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... OMIM:300953
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Furrowed tongue, Hyperkeratosis,... OMIM:148210
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Noonan Syndrome 4
Curly hair, Ventricular septal defect, Sparse eyebrow, High anterior hairline, Pulmonic stenosis,... OMIM:610733
Netherton Syndrome
Sparse scalp hair, Villous atrophy, Brittle hair, Parakeratosis, Brittle scalp hair, Sparse eyebr... OMIM:256500
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis ORPHA:1028
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive... ORPHA:363618
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Ortho... OMIM:607626
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Budd-Chiari syndrome... OMIM:127550
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate, Sparse hair, Tetralogy of Fallot ORPHA:2316
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Abnormality of hair texture ORPHA:88618
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Abnormal cardiac septum morph... ORPHA:3079
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Abnormal pulmonary valve morphology, Portal hypertension, ... ORPHA:974
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Ventricular septal defect, Sparse eyebr... ORPHA:1071
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Synophrys, Low anterior hairline, Low posterior hairline, Macroglossia,... OMIM:617303
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... ORPHA:500
Oculodentodigital Dysplasia
Atrial septal defect, Dry hair, Slow-growing hair, Cleft palate, Fine hair, High palate, Sparse h... OMIM:164200
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Curly hair, Sparse scalp hair, Atrial septal defect, Ventricular septal def... OMIM:607721
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Macroglossia, Nail dystrophy, Atrial septal defect ORPHA:93947
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Ventricular septal defect, Absent eyela... OMIM:106260
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair ORPHA:100976
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Bicuspid aortic valve, Hyperconvex nail, Hypoplastic left heart, Sparse hair OMIM:619721
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:613101
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... ORPHA:324
Woodhouse-Sakati Syndrome
Sparse hair, Abnormal T-wave, Alopecia, Fine hair OMIM:241080
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Malabsorption, Sparse eyebrow, Abnormal hair morphology, Fin... ORPHA:634
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysp... ORPHA:217346
Koolen-De Vries Syndrome
Hypopigmentation of hair, Bicuspid aortic valve, Abnormality of hair texture, High, narrow palate... ORPHA:96169
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,... OMIM:614941
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Hypertension, Patchy alopecia OMIM:617763
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Ventricular septal d... ORPHA:2710
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, High, narrow palate, Low anterior hairline, Thin eyebrow, Sparse hair, Pili tor... ORPHA:1787
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Retinal hemorrhage, Nail pits, Fine hair, Hyperkerat... OMIM:308300
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology ORPHA:3082
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate, Furrowed tongue, High palate, Spar... OMIM:616449
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormality of hair texture, Pyloric stenosis, ... OMIM:610443
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Nail dystrophy OMIM:270300
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Premature graying of hair, Nail dystrophy, Generalized hypopigmentation of hai... ORPHA:3322
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Intellectual Developmental Disorder, Autosomal Recessive 5
Sparse hair, Synophrys, Thick eyebrow OMIM:611091
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Bilateral cleft lip and ... ORPHA:3253
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Fine hair, Premature graying of hair, Intestinal bleeding, Nail dystrophy... OMIM:612199
Syndromic Diarrhea
Aortic regurgitation, Atrial septal defect, Hypopigmentation of hair, Brittle hair, Bicuspid aort... ORPHA:84064
Cutis Laxa, Autosomal Recessive, Type Iia
Coarse hair, Brittle hair, High palate, Abnormality of hair texture OMIM:219200
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair, Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Sparse eyelashes, Esophageal stricture, Pterygium of nails, Palmoplantar hyper... OMIM:224230
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Curly hair, Villous atrophy, Brittle hair, Ventricular septal defect, Fine ... OMIM:222470
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology ORPHA:1515
D-Glyceric Aciduria
Bradycardia OMIM:220120
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... ORPHA:163654
Tetrasomy 12P
Sparse hair, Anal atresia, Sparse eyebrow, Abnormal soft palate morphology ORPHA:884
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Distal Duplication 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... ORPHA:26793
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Congestive heart failure... ORPHA:2108
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Premature graying of hair, Nail dystrophy, Oral leukoplakia OMIM:619767
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect, Synophrys, Widow's peak, Coarse hair, Horizo... OMIM:620072
Pachyonychia Congenita 3
Plantar hyperkeratosis, Onychogryposis of toenails, Furrowed tongue, Palmoplantar keratoderma, Na... OMIM:615726
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Oral leukoplakia, Ridged fingernail OMIM:268130
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... OMIM:615559
Immunodeficiency 27A
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly OMIM:209950
16P12.1P12.3 Triplication Syndrome
Tachycardia, High, narrow palate, Abnormal heart morphology, Abnormal tricuspid valve morphology,... ORPHA:485405
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Low anterior hairline, Hirsutism, High palate, Woolly hair, Broad eyebrow OMIM:619244
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, High palate OMIM:620001
Lamellar Ichthyosis
Sparse hair, Hyperkeratosis, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy OMIM:620282
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia ORPHA:70
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Hyperkeratosis, Abnormal fingernail morphology, Fine hair ORPHA:1806
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Curly hair, High palate, Mitral valve prolapse OMIM:300986
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Cleft palate, Low posterior hairline ORPHA:1912
Hereditary Coproporphyria
Tachycardia, Extension of hair growth on temples to lateral eyebrow, Facial hirsutism ORPHA:79273
Copper Deficiency, Familial Benign
Curly hair, Early balding OMIM:121270
Xp22.13P22.2 Duplication Syndrome
Sparse hair, High anterior hairline, High palate ORPHA:284180
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Paronychia, Dilated cardiomyopathy, Esophageal stricture, Nail dystrophy, Bradycardia, ... ORPHA:79404
Teebi-Shaltout Syndrome
Slow-growing hair, Ventricular septal defect, Highly arched eyebrow, High, narrow palate, Low ant... OMIM:272950
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Dyskeratosis Congenita, Autosomal Recessive 3
Oral leukoplakia, Nail dystrophy, Squamous cell carcinoma of the tongue OMIM:613988
Chops Syndrome
Curly hair, Ventricular septal defect, Thick hair, High, narrow palate, Synophrys, Anomalous pulm... OMIM:616368
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Atrial septal defect, Sup... ORPHA:97214
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Narrow palate, Thin eyebrow, ... OMIM:190350
Congenital Fibrinogen Deficiency
Tachycardia, Abnormality of the subungual region, Left ventricular hypertrophy, Volvulus, Interna... ORPHA:335
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Sparse hair, Subvalvular aortic stenosis, Atrial... OMIM:614114
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Congestive heart failure, Cardiac myxoma, Fine hair, Hyp... OMIM:181270
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Fanconi Anemia, Complementation Group S
Sparse hair, Long eyelashes, Low anterior hairline, Narrow palate OMIM:617883
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Nail dy... OMIM:620133
Orofaciodigital Syndrome Type 3
Lobulated tongue, Bifid uvula, Hamartoma of tongue, Abnormality of hair texture ORPHA:2752
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Colon can... OMIM:608615
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Oral leukoplakia OMIM:613990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Ileal atresia OMIM:615351
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Atrial septal defect, Slow-growing hair, Absent eyelashes, Submucous ... OMIM:115150
Noonan Syndrome
Abnormal hair quantity, Abnormal pulmonary valve morphology, Low posterior hairline, Coarse hair,... ORPHA:648
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Hall-Riggs Syndrome
Coarse hair, Slow-growing hair, Thick hair ORPHA:2107
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor... OMIM:232300
Mucopolysaccharidosis, Type Iiid
Thick eyebrow, Synophrys, Asymmetric septal hypertrophy, Macroglossia, Mitral regurgitation, Coar... OMIM:252940
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia, Aganglionic megacolon ORPHA:2151
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Trichothiodystrophy 3, Photosensitive
Brittle hair, Pyloric stenosis, Tiger tail banding, Meckel diverticulum, Trichorrhexis nodosa OMIM:616395
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,... ORPHA:3353
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Esophageal stenosis, Telangiectasia of the skin, Abnormal ... ORPHA:1775
Mucolipidosis Type Ii
Aortic regurgitation, Dry hair, Abnormal atrioventricular valve physiology, Abnormal mitral valve... ORPHA:576
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency, Ventricular septal hypertrophy OMIM:619322
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Esophageal stenosis, Nail dystrophy OMIM:616553
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Highly arched eyebrow, Sy... OMIM:609460
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Intellectual Developmental Disorder, Autosomal Dominant 65
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline OMIM:619320
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Sparse hair, Synophrys, Low anterior hairline, Fine hair ORPHA:391408
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Brittle hair OMIM:616084
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Sepsis In Premature Infants
Tachycardia, Enterocolitis, Bradycardia, Hypotension ORPHA:90051
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Raynaud phenomenon, Telangiectasia, Nail dystrophy, Periungual ery... OMIM:615934
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Thin eyebrow, Abnormal T-wave, Arrhythmia ORPHA:2131
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Pericardial effusio... ORPHA:99827
Orofaciodigital Syndrome I
Dry hair, Alopecia, Hamartoma of tongue, Cleft palate, Abnormal heart morphology, Tongue nodules,... OMIM:311200
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Cleft palate, Fine hair, High palate, Nail dysplasia, Sparse hair, Aplasia/Hypoplasi... OMIM:614091
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation OMIM:619576
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Hypoplastic nipples, Abnormalit... ORPHA:978
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Hirsutism, Cardiomyopathy, Coarse hair, Macroglossia, Thick eyebrow OMIM:253220
Joubert Syndrome 37
Sparse hair, High palate OMIM:619185
Dyskeratosis Congenita, Autosomal Recessive 2
Oral leukoplakia, Nail dystrophy OMIM:613987
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Fine hair OMIM:619428
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Long eyelashes, Narrow palate, Fine hair OMIM:620250
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, High palate OMIM:614105
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, High palate, Sparse hair, Fragile nails ORPHA:77258
Adiposis Dolorosa
Sparse pubic hair, Xerostomia, Telangiectasia of the skin, Sparse axillary hair ORPHA:36397
Encephalitis Lethargica
Bradycardia ORPHA:83600
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia ORPHA:90673
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Cartilage-Hair Hypoplasia
Anal stenosis, Sparse eyelashes, Sparse facial hair, Aganglionic megacolon, Malabsorption, Sparse... OMIM:250250
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Palmoplantar keratoderma, Fragile nails OMIM:242150
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Supernumerary nipple, High... ORPHA:373
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Palmoplantar keratoderma, Abnormal fingernail morphology ORPHA:659
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Ventricular septal defect, Highly arched eyebrow, Low posterior hairline, Atrial sept... OMIM:617360
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Fine hair, Hypertension, Coarse hair, Cerebral ischemia, Pulmonary art... OMIM:242900
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Leopard Syndrome 1
Bundle branch block, Complete atrioventricular canal defect, Cleft palate, Mitral valve prolapse,... OMIM:151100
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Nail dystrophy OMIM:618165
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
High palate, Fine hair ORPHA:363686
Chromosome 5P13 Duplication Syndrome
Sparse hair, High palate, Low posterior hairline OMIM:613174
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Mucopolysaccharidosis Type 3
Thick hair, Cardiomegaly, Malabsorption, Synophrys, Atrioventricular block, Macroglossia, Coarse ... ORPHA:581
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair OMIM:300869
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, Subretinal pigment epithelium hemorrhage, Coarse hair, High palate, Sparse hair ORPHA:357074
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair OMIM:118650
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Ventricular septal defect, Concave nail... ORPHA:33364
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Coarse hair, Arterial rupture, Nail dysplasia OMIM:612394
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Sparse eyebrow, Abnormal cardiac septum morphology, Nail dysplasia, Sparse hair OMIM:613026
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Refsum Disease
Heart block, Cardiomyopathy, Nail dysplasia ORPHA:773
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Highly arched eyebrow, Low posterior hairline, Fine hair, Mitral regurgita... OMIM:613563
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Small nail, Sparse hair, High anteri... OMIM:250410
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Dyskeratosis Congenita, Digenic
Oral leukoplakia, Alopecia, Sparse eyelashes, Nail dystrophy OMIM:620040
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Ventricular septal... ORPHA:444077
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Sparse hair, Inflammation of the large intestine, Nail dystrophy ORPHA:98813
Costello Syndrome
Deep-set nails, Curly hair, Atrial septal defect, Ventricular septal defect, Thin nail, Concave n... OMIM:218040
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Doub... ORPHA:3426
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Brittle hair, Submucous cleft hard palate, Fine hair, Sparse hair OMIM:618891
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... OMIM:148500
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Synophrys, Cleft palate, Low posterior hairline, Coarse hair, Thick eyebrow ORPHA:1394
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Narrow palate, Telangie... OMIM:234100
Ritscher-Schinzel Syndrome 4
Curly hair, High palate, Narrow palate OMIM:619435
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Supernumerary nipple, Sparse eyebrow, Fine hair, Mitral regurgitation, Long... ORPHA:261349
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair OMIM:268020
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair, High palate OMIM:608612
Nephroblastoma
Lymphadenopathy ORPHA:654
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Hyperkeratosis, Alopecia, Abnormal toenail morphology ORPHA:1005
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Marshall-Smith Syndrome
Atrial septal defect, Brittle hair, Ventricular septal defect, Highly arched eyebrow, Dysplastic ... OMIM:602535
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Palmoplantar ke... ORPHA:1010
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Opitz-Kaveggia Syndrome
Anal stenosis, Intestinal malrotation, Pyloric stenosis, Cleft palate, Abnormal heart morphology,... OMIM:305450
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Xerostomia, Palmoplantar hyperkeratosis, Ankyloglossia, Nail dystroph... ORPHA:2907
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Papillon-Lefèvre Syndrome
Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystr... ORPHA:678
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... OMIM:601992
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Sparse eyelashes, Sparse eyebrow OMIM:224900
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Intestinal polyp, Lactose intolerance ORPHA:457485
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Protruding tongue, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:212066
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Cleft palate, Syncope, High palate, Palp... OMIM:170390
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Cleft palate, Coarse hair, High palate OMIM:130720
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair OMIM:618253
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Bradycardia ORPHA:90674
Heme Oxygenase 1 Deficiency
Asplenia, Cervical lymphadenopathy, Lymphadenopathy OMIM:614034
Bor Syndrome
Branchial cyst ORPHA:107
Mandibuloacral Dysplasia
Alopecia, Abnormal tongue morphology, High palate, Sparse hair, Hypoplastic fingernail ORPHA:2457
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
African Trypanosomiasis
Abnormal EKG, Pericarditis, Alopecia, Myocarditis, Congestive heart failure, Second degree atriov... ORPHA:3385
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:268400
Woodhouse-Sakati Syndrome
Abnormal T-wave, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Macrocephaly/Autism Syndrome
Coarse hair, High palate OMIM:605309
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Galloway-Mowat Syndrome 9
Coarse hair, Hiatus hernia OMIM:619603
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline, Muscular ventricular septal defect OMIM:618569
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair ORPHA:2234
Chime Syndrome
Ventricular septal defect, Pulmonary valve atresia, Cleft palate, Fine hair, Hyperkeratosis, Tran... ORPHA:3474
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Sudden cardiac death, Myocardial infarction, Acantholysis, Esophagea... ORPHA:36426
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Low anterior hairline, Generalized hirsutism ORPHA:2095
Trichohepatoneurodevelopmental Syndrome
Curly hair, Ventricular septal defect, Synophrys, Macroglossia, Coarse hair, Long eyelashes, Hypo... OMIM:618268
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect, Cleft palate, Fine hair, High palate, Sparse hair ORPHA:251028
Cerebellofaciodental Syndrome
Sparse eyebrow, Mitral valve prolapse, Ventricular septal defect, Fine hair OMIM:616202
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Thick eyebrow ORPHA:127
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Sudden cardiac death, Malabsorption, Intestinal perforation, Acantho... ORPHA:537
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair, High palate ORPHA:50814
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Malabsorption, Heart block, Sparse eyebrow, Cardiomyopathy, Abnormal cardi... ORPHA:175
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair, High palate ORPHA:85184
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension, Anal stenosis, Sparse scalp hair OMIM:620029
Kid Syndrome
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Neoplasm of the tongue, Trichilemmo... ORPHA:477
Genitopatellar Syndrome
Atrial septal defect, Sparse scalp hair, Fine hair ORPHA:85201
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Narrow palate, High palate, Sparse hair, Sparse lateral eyebrow OMIM:618644
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Cleft palate, Aplastic/hypoplastic toenail, Fine hair, Aplasia/Hypoplasia o... ORPHA:1812
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges... ORPHA:185
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Brittle hair, Cardiomegaly, Sparse eyebrow, Congestive heart failure, Heart... OMIM:252500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Thick hair, Congestive heart failure, Abnormal heart morpho... ORPHA:505248
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Ogden Syndrome
Atrial septal defect, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, ... OMIM:300855
Short Stature, Microcephaly, And Endocrine Dysfunction
Sparse hair, Dilated cardiomyopathy OMIM:616541
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Hamartoma of tongue, Cleft palate, Hypertension, Coarse hair, Lobulated t... ORPHA:2750
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Pyloric stenosis, Fine hair OMIM:614438
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair OMIM:616200
Warty Dyskeratoma
Abnormal fingernail morphology, Neoplasm of the tongue, Acantholysis ORPHA:69745
Papa Syndrome
Lymphadenopathy ORPHA:69126
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Cl... OMIM:617063
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair OMIM:219150
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:911
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Lo... ORPHA:308552
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Ventricular septal defect, Intestinal malrotation, Intestinal atresia, Rectal abs... ORPHA:436252
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Oral leukoplakia OMIM:615735
Darier-White Disease
Ridged nail, Enlargement of parotid gland, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Down Syndrome
Aganglionic megacolon, Protruding tongue, Narrow palate, Macroglossia, Sparse hair, Anal atresia ORPHA:870
Acrofacial Dysostosis, Catania Type
Coarse hair, Abnormal hair pattern ORPHA:1786
White-Sutton Syndrome
Atrial septal defect, Cleft palate, High palate, Sparse hair, Patent foramen ovale, Bifid uvula OMIM:616364
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Low-to-normal blood pressure, Sy... ORPHA:358
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly OMIM:618935
Rothmund-Thomson Syndrome
Plantar hyperkeratosis, Sparse eyelashes, Telangiectasia of the skin, Alopecia totalis, Sparse ey... ORPHA:2909
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Tricuspid regurgitation, Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Orthok... ORPHA:73223
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Tricuspid regurgitation, Sparse eyebrow, Palmoplantar hyperkeratosis,... OMIM:619127
Craniolenticulosutural Dysplasia
Brittle hair, Cleft palate, Coarse hair, High palate, Sparse hair, Bifid uvula OMIM:607812
Eec Syndrome
Slow-growing hair, Sparse eyebrow, Xerostomia, Nail pits, Fine hair, Cleft palate, Hyperkeratosis... ORPHA:1896
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Hydrocephalus, Low posterior hairline, Tricuspid va... ORPHA:261337
Trisomy 20P
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Ec... ORPHA:261318
Hajdu-Cheney Syndrome
Mitral stenosis, Abnormal fingernail morphology, Ventricular septal defect, Intestinal malrotatio... ORPHA:955
Macs Syndrome
Sparse hair, Alopecia, High palate, Sparse eyebrow OMIM:613075
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Esophagitis, Abnormality of hair texture ORPHA:79351
Myhre Syndrome
Atrial septal defect, Ventricular septal defect, Pericardial effusion, Cleft palate, Fine hair, H... OMIM:139210
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Nail dyspl... OMIM:616682
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Familial Mediterranean Fever
Pericarditis, Intestinal obstruction, Myocardial infarction, Malabsorption, Vasculitis, Arrhythmi... ORPHA:342
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Melnick-Needles Syndrome
Cleft palate, Mitral valve prolapse, Coarse hair, Tricuspid valve prolapse, Pulmonary arterial hy... OMIM:309350
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Branchial fistula, Truncus arteriosus, Ventricular septal defect ORPHA:261330
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Marshall Syndrome
Sparse eyelashes, Sparse eyebrow, Cleft palate, High palate, Sparse hair ORPHA:560
Bainbridge-Ropers Syndrome
Intestinal malrotation, Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long e... OMIM:615485
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow ORPHA:585
Fontaine Progeroid Syndrome
Sparse scalp hair, Atrial septal defect, Tricuspid regurgitation, Absent nipple, Bicuspid aortic ... OMIM:612289
Aredyld Syndrome
Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Abnormal pulmonary valve morphology, Abnormality of hair texture ORPHA:667
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:2637
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Tracheoesophageal fistula, Sparse body hair ORPHA:3068
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Glass Syndrome
Cleft palate, High palate, Long eyelashes, Nail dysplasia, Sparse hair OMIM:612313
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Widow's peak, Cleft palate, Low posterior hairline, Unilater... OMIM:304110
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Highly arched eyebrow, Cleft palate, Fine hair, Palmoplantar hyperkera... OMIM:280000
Scarf Syndrome
Sparse hair, Hypoplastic nipples, Low posterior hairline ORPHA:3134
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy OMIM:603909
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy ORPHA:66634
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... OMIM:608156
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... OMIM:616878
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dystrophic fingernails... OMIM:150400
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Pyloric stenosis, Mitral valve prolapse, Right bun... OMIM:617402
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Sparse eyebrow, High pal... OMIM:244450
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Cranioectodermal Dysplasia 3
Sparse hair, Broad nail, Short nail, Fine hair OMIM:614099
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Zttk Syndrome
Aortic regurgitation, Curly hair, Ventricular septal defect, Sparse eyebrow, Submucous cleft hard... OMIM:617140
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Steinert Myotonic Dystrophy
Alopecia, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Card... ORPHA:273
Hawkinsinuria
Sparse hair OMIM:140350
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Bradycardia OMIM:218700
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Malabsorption, White hair, Aganglionic megacolon, Fine hair ORPHA:935
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, High palate, Bradycardia OMIM:614437
Kindler Syndrome
Ridged nail, Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Palmoplantar hyperke... OMIM:173650
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Sparse axillary hair, Sparse eyebro... OMIM:129900
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Synophrys, Thick eyebrow, Pulmonic stenosis ORPHA:529962
Griscelli Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Intracranial hemorrhage, Sp... ORPHA:565
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, High palate ORPHA:1974
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Hypoplastic nipples, Nail dyspla... OMIM:230740
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Atrial septal defec... OMIM:617403
Scalp-Ear-Nipple Syndrome
Sparse hair, Hypertension, Abnormal fingernail morphology, Breast aplasia ORPHA:2036
Cockayne Syndrome B
Dry hair, Abnormal hair morphology, Hypertension, Sparse hair, Arrhythmia OMIM:133540
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow OMIM:302960
Argininosuccinic Aciduria
Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Cranioectodermal Dysplasia 1
Slow-growing hair, Thin nail, Short nail, Bicuspid aortic valve, High, narrow palate, Fine hair, ... OMIM:218330
Dubowitz Syndrome
Sparse scalp hair, Anal stenosis, Abnormal fingernail morphology, Malabsorption, Hypoplastic toen... ORPHA:235
Lysinuric Protein Intolerance
Sparse hair, Fine hair, Pulmonary hemorrhage OMIM:222700
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Neurocardiofaciodigital Syndrome
Atrial septal defect, Sparse eyebrow, Double inlet left ventricle, High palate, Sparse hair, Tetr... OMIM:619869
Alg3-Cdg
Neural tube defect ORPHA:79321
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Bradycardia ORPHA:226307
Noonan Syndrome 1
Ventricular septal defect, High, narrow palate, Cleft palate, Low posterior hairline, High palate... OMIM:163950
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Scarf Syndrome
Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline OMIM:312830
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormal tongue morphology, Palmoplantar keratoderma, Anoperineal fistula, Nail dystrophy, Follic... ORPHA:158668
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Cleft palate OMIM:615349
Bone Marrow Failure Syndrome 3
Hyperkeratosis, Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:617052
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Alopecia totalis, Telangiectasia, Sparse or absent eyelashes, Nail dyspla... ORPHA:221008
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Occipital Horn Syndrome
Orthostatic hypotension, Hiatus hernia, Coarse hair, High palate, Pili torti OMIM:304150
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Atrial septal defect, Absent nipple, Sparse eyebrow, Ankyloglossia, Hypoplastic nipples, Nail dys... OMIM:620186
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Cranioectodermal Dysplasia 2
Atrial septal defect, Sparse eyelashes, Sparse eyebrow, Cleft palate, Hypertension, High palate, ... OMIM:613610
Renpenning Syndrome 1
Atrial septal defect, Brittle hair, Ventricular septal defect, Situs inversus totalis, Cleft pala... OMIM:309500
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, High, narrow palate, Low anterior hairline, Low post... OMIM:601358
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Weaver Syndrome
Sparse hair, Thin nail, Deep-set nails, Fine hair OMIM:277590
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Telangiectasia of the skin, Abnormal hair morphology, Congestiv... ORPHA:79474
De Barsy Syndrome
Sparse hair, High palate, Ventricular septal defect ORPHA:2962
Cockayne Syndrome Type 3
Dry hair, Subdural hemorrhage, Retinal hemorrhage, Premature graying of hair, Cardiomyopathy, Inc... ORPHA:90324
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Heart block, High, narrow palate, Cardiomyopathy, Abnormal myocardium morphology, A... ORPHA:228308
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Low posterior hairline, High palate, N... ORPHA:1772
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Cockayne Syndrome A
Sparse hair, Hypertension, Arrhythmia, Dry hair OMIM:216400
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... ORPHA:31826
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:619802
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Complete at... ORPHA:508488
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Atrial septal defect, Sparse eyelashes, Ventricular septal defect, Sparse eyeb... OMIM:210710
Distal Deletion 12Q
High, narrow palate, Esophageal atresia, Pyloric stenosis, Fine hair, Congenital hypertrophy of l... ORPHA:96149
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Atrial septal defect, Portal hypertension, Sparse hair, Pulmonary arterial hypertension, Patent f... OMIM:620005
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Treacher-Collins Syndrome
Encephalocele, Branchial fistula ORPHA:861
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Esophageal stricture, Pterygium of nails, Pr... OMIM:305000
Intellectual Developmental Disorder, X-Linked, Syndromic 33
High, narrow palate, Synophrys, Sparse hair, Toenail dysplasia, Hirsutism OMIM:300966
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Chand Syndrome
Curly hair, Bifid tongue, Cleft palate, Nail dysplasia ORPHA:1401
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Ileus, Aganglionic megacolon OMIM:300352
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Alopecia totalis, Cleft palate, Sparse or absent eyelashes, High palate, ... ORPHA:221016
Stuve-Wiedemann Syndrome 1
Sparse hair, Pulmonary arterial hypertension, Smooth tongue OMIM:601559
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia ORPHA:920
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail OMIM:614813
Felty Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Restrictive Dermopathy
Atrial septal defect, Short nail, Dextrocardia, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia... ORPHA:1662
Monosomy 22
Sparse hair, Synophrys, High palate ORPHA:96123
Premature Aging Syndrome, Penttinen Type
Sparse hair, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:601812
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:85450
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Atrial septal defect, Ventricular septal defect, Intestinal malrotat... OMIM:135900
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Coffin-Lowry Syndrome
Highly arched eyebrow, Rectal prolapse, Narrow palate, Hyperconvex fingernails, Mitral regurgitat... OMIM:303600
Normosmic Congenital Hypogonadotropic Hypogonadism
Cleft palate, Sparse body hair, Breast hypoplasia ORPHA:432
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Brittle hair OMIM:124000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Adult-Onset Still Disease
Splenomegaly, Generalized lymphadenopathy, Bone marrow hypocellularity ORPHA:829
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Synophrys, High palate, Thoracic hypertrichosis, Medial flaring of the eyebrow, Cleft soft palate... OMIM:619503
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Epistaxis, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hair... OMIM:619841
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Leprosy
Absent eyebrow, Alopecia, Epistaxis, Loss of eyelashes, Hyperkeratosis, Sparse body hair ORPHA:548
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, High palate OMIM:300661
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... ORPHA:79102
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Dyskeratosis, Hereditary Benign Intraepithelial
Oral leukoplakia OMIM:127600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Cleft soft palate, High, narrow palate, Low anterior hairline, Cleft palate, Long eye... OMIM:619950
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Pyloric stenosis, Cleft palate, Coarse hair, Perimembranous ventricular septal defect ORPHA:83617
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Di... OMIM:619991
Legionnaires Disease
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:549
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Intestinal malrotation, Supernumerary nipple, Hiatus hernia, Cleft pal... OMIM:305600
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, High palate OMIM:619934
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Alopecia, Abnormal fingernail morphology, Bicuspid aortic valve, Myocardia... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Alopecia, Abnormal fingernail morphology, Bicuspid aortic valve, Myocardia... ORPHA:99228
Monosomy X
Prolonged QT interval, Alopecia, Abnormal fingernail morphology, Bicuspid aortic valve, Myocardia... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Alopecia, Abnormal fingernail morphology, Bicuspid aortic valve, Myocardia... ORPHA:881
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis ORPHA:455
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Ulnar-Mammary Syndrome
Anal stenosis, Ventricular septal defect, Sparse axillary hair, Pyloric stenosis, Axillary apocri... OMIM:181450
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Hypertrichosis ORPHA:86309
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Ectodermal Dysplasia And Immunodeficiency 2
Sparse hair, Aplasia of the sweat glands, Sparse scalp hair OMIM:612132
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Chronic gastritis, Bicuspid aortic valve, Myocardial infarction, Partial anoma... OMIM:150230
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Cleft palate, Cardiomyopathy, High palate, Hypoplastic nipples, Atrial septal defect,... ORPHA:480880
Cardiac-Urogenital Syndrome
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy OMIM:614748
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Intellectual Developmental Disorder, Autosomal Dominant 54
Sparse hair, Thin nail OMIM:617799
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
White Sponge Nevus 1
Oral leukoplakia OMIM:193900
Neuroocular Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Short uvula, Submucous cleft hard palate, Ankylog... OMIM:619539
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Transient ischemic attack, Submucous cleft soft palate, Sparse eyebrow, Cleft palate,... ORPHA:500150
Mevalonic Aciduria
Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:610377
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Vascular Ehlers-Danlos Syndrome
Alopecia, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology,... ORPHA:286
Lenz-Majewski Hyperostotic Dwarfism
Sparse hair, Microglossia, Anteriorly placed anus, Cleft palate OMIM:151050
Pemphigus Vulgaris
Acantholysis ORPHA:704
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy OMIM:267700
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication ORPHA:416
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Aganglionic megacolon, Abnormal eyelash morphology, Ab... ORPHA:2273
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Orthostatic hypotension, Hypertension, Sparse hair, Pulmonary arterial hyperte... OMIM:606721
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Iga Pemphigus
Ulcerative colitis, Acantholysis ORPHA:555905
Occipital Horn Syndrome
Thick hair, Hiatus hernia, High, narrow palate, Coarse hair, Esophagitis ORPHA:198
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Cockayne Syndrome
Hypertension, Dry hair, Retinal hemorrhage, Fine hair ORPHA:191
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Wrinkly Skin Syndrome
Short nail, Muscular ventricular septal defect, High palate, Sparse hair, Atrial septal dilatatio... OMIM:278250
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Pemphigus Erythematosus
Acantholysis ORPHA:79480
Roberts Syndrome
Sparse hair, High palate, Cleft palate ORPHA:3103
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo... ORPHA:50918
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Trichiasis, Acantholysis, Intestinal perforation, Xerostomia, Nail dystrophy, Anonychia, Abnormal... ORPHA:95455
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Branchial anomaly, Tetralogy o... OMIM:164210
Branchiooculofacial Syndrome
Branchial anomaly, Low posterior hairline, Short neck OMIM:113620
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Loss of eyelashes, Submucous cleft hard palate, Cleft palate, Thin eyebrow, Sparse hair... ORPHA:2636
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy ORPHA:33226
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Malabsorption, Narrow palate, Fine hair ORPHA:534
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Cherubism
Submandibular lymph node enlargement OMIM:118400
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Atrial situs ambiguous, Ventricular septal defect, Dextroca... ORPHA:99125
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Anteriorly placed anus, Hypoplastic nipples, Sparse hair, Hypop... OMIM:200110
Pemphigus Foliaceus
Acantholysis ORPHA:79481
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy OMIM:214500
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Submucous cleft soft palate, Synophrys, Congenital malformation of the left he... ORPHA:3455
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:602782
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sparse hair, Frontal hirsutism, Rectal prolapse, High palate OMIM:617157
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly ORPHA:31150
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Hyperconvex nail, High, narrow palate, Fine hair, Intracranial hem... OMIM:613406
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy OMIM:619418
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Poems Syndrome
Lymphadenopathy ORPHA:2905
H Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Pseudohypoparathyroidism Type 1C
Prolonged QT interval ORPHA:79444
Wrinkly Skin Syndrome
Sparse hair, Atrial septal dilatation, High palate ORPHA:2834
Q Fever
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:781
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Sparse pubic hair, Sparse body hair, Sparse axillary hair ORPHA:90796
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Peptic ulcer ORPHA:99880
Hennekam Syndrome
Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy ORPHA:2136
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Parathyroid Carcinoma
Shortened QT interval, Peptic ulcer ORPHA:143
Menke-Hennekam Syndrome 1
Cleft palate, High palate, Long eyelashes, Sparse hair, Thick eyebrow OMIM:618332
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615688
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Atrial septal defect, Sparse eyelashes, Ventricular septal defect, S... OMIM:601803
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... ORPHA:3261
Chédiak-Higashi Syndrome
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:167
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Roberts-Sc Phocomelia Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate, High palate, Sparse hair OMIM:268300
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Shortened QT interval, Hematemesis, Melena, Hypertension ORPHA:652
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Primrose Syndrome
Sparse scalp hair, Absent facial hair, Synophrys, High palate, Absent axillary hair, Dystrophic f... OMIM:259050
Alström Syndrome
Portal hypertension, Frontal balding, Congestive heart failure, Dilated cardiomyopathy, Esophagea... ORPHA:64
Brucellosis
Hypersplenism, Splenomegaly, Lymphadenopathy ORPHA:1304
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Behçet Disease
Splenomegaly, Lymphadenopathy ORPHA:117
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619381
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:220386
Sarcoidosis
Abnormal lymph node morphology, Lymphadenopathy ORPHA:797
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:256040
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Blau Syndrome
Splenomegaly, Lymphadenopathy ORPHA:90340
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Abnormal lymph node morphology ORPHA:99889
Leptospirosis
Lymphadenopathy ORPHA:509
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Palmoplantar keratoderma ORPHA:154
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma OMIM:612908
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency ORPHA:2032

Histopathology

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

There is no histopathology data for Dsp

IMPC related publications

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

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dsptm356609(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dspem1(IMPC)Mbp Exon Deletion Mice, Tissue

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