banner
Genes Phenotypes Help, News, Blog

Gene: Dsp MGI:109611

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

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 placenta morphology Dspem1(IMPC)Mbp HET E15.5 0.00
abnormal neural tube morphology Dspem1(IMPC)Mbp HET E9.5 0.00
abnormal embryo turning Dspem1(IMPC)Mbp HOM E9.5 0.00
abnormal lymph node morphology Dspem1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Dspem1(IMPC)Mbp HOM E9.5 0.00
abnormal midbrain development 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 morphology Dspem1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Dspem1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Dspem1(IMPC)Mbp HOM   Early adult 0.00
abnormal embryo turning Dspem1(IMPC)Mbp HET E9.5 0.00
enlarged lymph nodes Dspem1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube closure Dspem1(IMPC)Mbp HET E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

57 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

19 Images

View images
Gross Morphology Embryo E14.5-E15.5

Images

6 Images

View images
Gross Morphology Embryo E9.5

Images

19 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

9 Images

View images

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
Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis, Woolly hair ORPHA:65282
Striate Palmoplantar Keratoderma
Abnormality of the nail, Palmoplantar keratoderma, Abnormal hair morphology ORPHA:50942
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Wo... OMIM:607450
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Nail dystrophy, Leukonychia, Parakeratosis, Palmoplantar keratoderma, Hyperkeratosis, Woolly hair... OMIM:615821
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Nail dystrophy, Acantholysis, Woolly hair, Sparse eyelashes, Sparse eye... OMIM:605676
Lethal Acantholytic Erosive Disorder
Absent hair, Absent eyelashes, Cardiomyopathy, Hypovolemic shock, Absent fingernail, Absent eyebr... ORPHA:158687
Keratosis Palmoplantaris Striata Ii
Abnormality of the nail, Palmoplantar keratoderma, Abnormal hair morphology OMIM:612908
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia ORPHA:154
Epidermolysis Bullosa, Lethal Acantholytic
Absent fingernail, Anonychia, Alopecia totalis, Alopecia universalis, Acantholysis OMIM:609638
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
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... 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, Palmoplantar keratoderma, Woolly hair, Ventricular arrhythmia, ... OMIM:610476
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Palmoplantar keratoderma, Woolly hair, Ventricular arrhythmia, ... OMIM:611528
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Naxos Disease
Nail dystrophy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Abnormal h... OMIM:601214
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Abnormality of hair texture, Cardio... ORPHA:34217
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis, Woolly hair ORPHA:65282
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... 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, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Woolly h... OMIM:610193
Striate Palmoplantar Keratoderma
Abnormality of the nail, Palmoplantar keratoderma, Abnormal hair morphology ORPHA:50942
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function 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, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Abnormal hair morphology, Abnormality of the nail, Onychogryposis of toenails, Sp... ORPHA:1808
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... OMIM:613102
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia OMIM:615770
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi... OMIM:612124
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse axillary hair, Sparse hair, Fine ha... ORPHA:189
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block, Abnormal cardiac septum morphology ORPHA:1479
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Wo... OMIM:607450
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Nathalie Syndrome
Abnormal EKG OMIM:255990
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Nail dystrophy, Leukonychia, Parakeratosis, Palmoplantar keratoderma, Hyperkeratosis, Woolly hair... OMIM:615821
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Kerion Celsi
Lymphadenopathy ORPHA:499
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Nail dystrophy, Acantholysis, Woolly hair, Sparse eyelashes, Sparse eye... OMIM:605676
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Hypoplastic left heart OMIM:616276
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to... OMIM:617294
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Nail dystrophy, Ventricular bigeminy, Myofiber disarray, Bicuspid aortic valve, Patent foramen ov... OMIM:620519
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Monilethrix
Nail dysplasia, Perifollicular hyperkeratosis, Nail dystrophy, Brittle hair, Abnormality of hair ... OMIM:158000
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Coronary Arterial Fistula
Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte... ORPHA:2041
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Monilethrix
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Hyperkeratosis, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Alopecia OMIM:610768
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy OMIM:619048
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Pili Torti
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... ORPHA:2889
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Cardiofaciocutaneous Syndrome 2
High palate, Absent eyebrow, Curly hair, Sparse hair, Mitral valve prolapse, Fine hair OMIM:615278
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Alo... OMIM:618775
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ... OMIM:616099
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Sparse hair, Widow's peak OMIM:606242
Lethal Acantholytic Erosive Disorder
Absent hair, Absent eyelashes, Cardiomyopathy, Hypovolemic shock, Absent fingernail, Absent eyebr... ORPHA:158687
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... OMIM:115197
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Long eyebrows, Bradycardia OMIM:614407
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti, Follicular hyperkeratosis OMIM:607903
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Arrhythmia, Abnormal hair morphology OMIM:618531
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Interstitial cardiac ... OMIM:181350
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Atrial septal defect,... OMIM:615279
Hypotrichosis 7
Brittle hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse scalp hair, Woolly... OMIM:604379
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... OMIM:612422
Aredyld
Generalized hypotrichosis OMIM:207780
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Sparse hair, Follicular hyperkeratosis OMIM:613576
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Palmoplantar keratoderma,... OMIM:104100
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Elevated pulmonary artery pressure, Congestive heart failu... ORPHA:1329
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Palmoplantar keratoderma, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse ... ORPHA:2890
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Nail dystrophy, Tiger tail banding, Sparse eyebrow, Sparse hair OMIM:619692
Cardiomyopathy, Familial Hypertrophic, 2
Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri... OMIM:115195
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Sparse hair, Aplasia/... ORPHA:1818
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
Schopf-Schulz-Passarge Syndrome
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Poroma, Apocrine... OMIM:224750
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Thin nail, Absent eyelashes, Hyperkeratosis, Absent eyebrow, Sparse hair OMIM:618625
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Muscle Filaminopathy
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy, Left ventricul... ORPHA:171445
Schöpf-Schulz-Passarge Syndrome
Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Palmoplantar keratoderma, ... ORPHA:50944
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Onychogryposis of fingernail, Ridged fingernail, Sparse hair, Fingernai... ORPHA:2251
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Small nail, Patchy alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenai... OMIM:613573
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Moynahan Syndrome
Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Congenital Sialidosis Type 2
Generalized hypertrichosis, Protruding tongue, Abnormal heart morphology, Abnormal EKG, Telangiec... ORPHA:93400
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Absent pubic hair, Brittle hair, Slow-growing hair, Small nail, P... OMIM:129500
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic fingernail, Abnormality of the nail, Abnormal fingernail morphology, Fragile nails, T... ORPHA:2228
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Follicular hyperkeratosis, Brittle hair OMIM:618546
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:129490
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block ORPHA:206559
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Abnormali... ORPHA:860
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Distichiasis, Sinus bradycardia OMIM:126320
Palmoplantar Keratoderma, Epidermolytic, 2
Palmoplantar hyperkeratosis, Curly hair OMIM:620411
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Atrial Fibrillation, Familial, 8
Atrial fibrillation OMIM:613055
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ... ORPHA:3093
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail morphology, Fine hair,... ORPHA:248
Focal Facial Dermal Dysplasia 3, Setleis Type
Anal atresia, Distichiasis, Low anterior hairline, Sparse hair, Absent lower eyelashes OMIM:227260
Keratosis Palmoplantaris Striata Ii
Abnormality of the nail, Palmoplantar keratoderma, Abnormal hair morphology OMIM:612908
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Hyperkeratosis, Sparse scalp hair, Fine hair, Pili torti ORPHA:1573
Noonan Syndrome 5
Small nail, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Sparse eyebrow, Arrhythmi... OMIM:611553
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Slow-growing hair, Abnormality of th... OMIM:615885
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse eyebrow, Nail ... OMIM:278150
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Abnormal Hair, Joint Laxity, And Developmental Delay
Trichorrhexis nodosa, Small nail, Tricuspid regurgitation, Sparse lateral eyebrow, Fragile nails,... OMIM:261990
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Small nail, Sparse hair, Arrhythmia OMIM:273400
Cardiofaciocutaneous Syndrome 4
Alopecia of scalp, Ventricular septal hypertrophy, Abnormal aortic valve morphology, Curly hair, ... OMIM:615280
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Hyperkeratosis, Curly hair, Sparse eyelas... OMIM:602400
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Bradycardia, High palate, Median cleft palate, Conotruncal defect,... ORPHA:40366
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Hypertension, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Trichodental Dysplasia
Slow-growing hair, Fine hair, Sparse hair, Brittle hair OMIM:601453
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Prolonged QRS complex, Cardiomegaly, P... ORPHA:75565
Oliver-Mcfarlane Syndrome
Alopecia, Long eyebrows, Sparse hair, Long eyelashes OMIM:275400
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Small nail, Abnormality of ha... OMIM:234050
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, First degree atrioventricular block, Atrioventricular block, Absent P wave, Pa... OMIM:310300
Witkop Syndrome
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... OMIM:189500
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Low posterior hairline, Mitral valve prolapse, Sparse facial hair, Absent fa... ORPHA:2183
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sparse hair ORPHA:79133
Choroidal Atrophy-Alopecia Syndrome
Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenail morphology, Bifid na... ORPHA:1433
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,... ORPHA:113
Woolly Hair, Autosomal Dominant
Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho... OMIM:194300
Noonan Syndrome 8
Hyperkeratosis, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Left ventricular hype... OMIM:615355
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Abnormal f... ORPHA:1809
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Woolly Hair-Skin Fragility Syndrome
Palmoplantar keratoderma, Acantholysis, Woolly hair OMIM:620415
Hypotrichosis 9
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Sparse eyebrow, Sparse b... OMIM:614237
Mucopolysaccharidosis, Type Iiib
Hirsutism, Synophrys, Asymmetric septal hypertrophy, Cardiomegaly, Coarse hair OMIM:252920
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia ORPHA:95717
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Bradycardia, Atrial fibrillation, Hirsutism, Pyloric stenosis, Tachycardia... OMIM:613327
Pachyonychia Congenita 2
Nail dysplasia, Nail dystrophy, Palmoplantar hyperkeratosis, Sparse scalp hair, Sparse eyebrow, S... OMIM:167210
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Fine hair, Alopecia ORPHA:1882
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Abnormal cardiac ventricle morph... ORPHA:85443
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L... OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach... OMIM:613873
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Sparse scalp hair, Fin... ORPHA:90368
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Leopard Syndrome 2
Hypertrophic cardiomyopathy, Curly hair OMIM:611554
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Woolly Hair Nevus
Woolly scalp hair, Curly hair, Congenital posterior occipital alopecia, Patchy hypopigmentation o... ORPHA:79414
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palmoplantar hy... OMIM:619208
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... OMIM:614931
Lessel-Kubisch Syndrome
Premature graying of hair, Hypertension, Sparse pubic hair OMIM:618681
Costello Syndrome
Narrow palate, Abnormal hair morphology, Hyperkeratosis, Hypertrophic cardiomyopathy, Woolly hair... ORPHA:3071
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Ogden Syndrome
Aplasia/Hypoplasia of the eyebrow, High, narrow palate, Cardiogenic shock, Arrhythmia, Fine hair,... ORPHA:276432
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Scarring alopecia of scalp, Sparse body hair, Anonychia, Palmoplantar keratoderma ORPHA:79402
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Myotonic Dystrophy 2
Frontal balding, Right bundle branch block, Premature ventricular contraction, Tachycardia, Palpi... OMIM:602668
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Heart block, Cardiomyopathy ORPHA:98912
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Pachyonychia Congenita
Palmar hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Follicular hyperkeratosis, Onych... ORPHA:2309
Noonan Syndrome 6
Long eyebrows, Low posterior hairline, Curly hair, Pulmonic stenosis, Hypertrophic cardiomyopathy... OMIM:613224
Leopard Syndrome 3
Abnormal aortic valve morphology, Hyperkeratosis, Low posterior hairline, Curly hair, Abnormal mi... OMIM:613707
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Pachyonychia Congenita 1
Nail dystrophy, Onychogryposis, Palmoplantar hyperkeratosis, Oral leukoplakia, Follicular hyperke... OMIM:167200
Glycogen Storage Disease Iv
Esophageal varix, Cardiomyopathy, Portal hypertension, Bradycardia OMIM:232500
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Sparse hair, Alopecia ORPHA:3363
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Furrowed tongue, Tracheoesophageal fistula, Sparse hair, Fine hair, Alopecia ORPHA:1839
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Noonan Syndrome 9
Pulmonic stenosis, Sparse eyebrow, Ventricular septal defect, Curly hair OMIM:616559
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Corneal neovascularization, Melena, Follicular hyperkeratosis, Ch... OMIM:158310
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Illum Syndrome
Bradycardia OMIM:208155
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis, Eosinophilic infiltration of the... OMIM:615508
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract obs... ORPHA:439232
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Hyperkeratosis, Sparse hair, Brittle hair ORPHA:1883
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Leukonychia, Hyperkeratosis, Onycholysis, Oral leukoplakia, Punctate palmoplantar hyperkeratosis,... OMIM:616295
Mucopolysaccharidosis, Type Iiia
Coarse hair, Hirsutism, Synophrys, Asymmetric septal hypertrophy OMIM:252900
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Trichoepithelioma, Furrowed tongue, Sparse hair, Pili torti, Coarse hair OMIM:301845
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse hair, Palmoplant... OMIM:618535
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Sparse hair OMIM:619985
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Olmsted Syndrome 1
Nail dysplasia, Nail dystrophy, Parakeratosis, Periorificial hyperkeratosis, Hyperparakeratosis, ... OMIM:614594
Even-Plus Syndrome
Highly arched eyebrow, Patent foramen ovale, High palate, Anal atresia, Synophrys, Sparse hair, A... OMIM:616854
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Abnormal heart morphology, Sparse hair, Abnormal hair whorl ORPHA:2872
Acrogeria
Fine hair, Telangiectasia of the skin ORPHA:2500
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Mucopolysaccharidosis, Type Iiic
Hirsutism, Synophrys, Asymmetric septal hypertrophy, Hypertrichosis, Coarse hair OMIM:252930
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Cardiomyopathy, Pericarditis, Telangiec... ORPHA:93672
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Spar... OMIM:604536
Filippi Syndrome
Frontal hirsutism, Ventricular septal defect, Hypertrichosis, Sparse hair OMIM:272440
Dextrocardia
Situs inversus totalis, Dextrocardia, Meckel diverticulum, Intestinal malrotation, Abnormal heart... ORPHA:1666
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Nail dystrophy, Hypertension, Sinus tachycardia, Sparse scalp hair, Pulm... OMIM:614008
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Glossitis, Abnormal eyebrow morphology, Generalized hirsutism, Fine hai... ORPHA:2221
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Craniofrontonasal Dysplasia
Abnormality of hair texture, High palate, Woolly hair, Low posterior hairline, Ridged fingernail,... ORPHA:1520
Pseudoprogeria Syndrome
Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia ORPHA:2985
Dyskeratosis Congenita, Autosomal Dominant 2
Premature graying of hair, Nail dysplasia, Nail dystrophy, Palmoplantar hyperkeratosis, White for... OMIM:613989
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Brittle hair OMIM:617392
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Scarring alopecia of scalp, Sparse scalp hair, Portal hypertension, Sparse eyelashes, Sparse body... ORPHA:59303
Fg Syndrome 3
Pyloric stenosis, Frontal upsweep of hair, Fine hair, Sparse hair OMIM:300406
Atrophoderma Vermiculata
Hyperkeratotic papule, Heart block, Follicular hyperkeratosis ORPHA:79100
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Villous atrophy, Brittle hair, Uncombable hair, Woolly hair, Sparse hair, C... OMIM:614602
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Congenital Myopathy 22A, Classic
High palate, Bradycardia, Tricuspid regurgitation, Synophrys OMIM:620351
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval, Left ventricular hypertrophy OMIM:619040
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Sparse hair OMIM:273390
Congenital Short Bowel Syndrome
Intestinal malrotation, Intestinal hypoplasia, Sparse hair ORPHA:2301
Braddock-Carey Syndrome 1
Curly hair, Cleft palate, Sparse hair, Ventricular septal defect, Aortic valve prolapse, Anterior... OMIM:619980
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology, Webbed neck ORPHA:1131
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Atrial septal defect, Ventricular septal defect, Coarse hair, Alopecia ORPHA:75389
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Erythrokeratodermia Variabilis Et Progressiva 7
Dystrophic toenail, Woolly hair, Palmoplantar hyperkeratosis OMIM:619209
Gand Syndrome
Sparse hair OMIM:615074
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High anterior hairline, Highly arched eyebrow, Slow-growing hair, Patent foramen ovale, Right bun... OMIM:617506
Odontoonychodermal Dysplasia
Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Palmoplantar hyperkeratosis, Smoo... OMIM:257980
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Tonne-Kalscheuer Syndrome
Small nail, Velopharyngeal insufficiency, Abnormal heart morphology, Concave nail, Fine hair OMIM:300978
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Distichiasis, Anal atresia, Sparse lateral eyebrow, Abnormal hair pattern,... ORPHA:1807
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Sparse scalp hair ORPHA:2324
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Syncope, Myocardial necrosis, Atrial ar... OMIM:300257
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Neonatal Lupus Erythematosus
Parakeratosis, Heart block, Prolonged QT interval, Hyperkeratosis, Abnormal heart morphology, Arr... ORPHA:398124
Agel Amyloidosis
Nail dystrophy, Cardiomyopathy, Sparse hair, Arrhythmia, Orthostatic hypotension due to autonomic... ORPHA:85448
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Patent foramen ovale, Cleft palate, Arrhythmia, Atrial septal defect OMIM:619184
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Dermoodontodysplasia
Toenail dysplasia, Sparse scalp hair, Sparse body hair, Fingernail dysplasia, Trichodysplasia ORPHA:1660
Menkes Disease
Alopecia, Intracranial hemorrhage, Sparse hair, Brittle hair OMIM:309400
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia ORPHA:154
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Intestinal obstruction, Brittle hair, Small nail, Hyperkera... OMIM:601675
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Vulto-Van Silfhout-De Vries Syndrome
Horizontal eyebrow, Fine hair, High palate, Widow's peak OMIM:615828
2Q32Q33 Microdeletion Syndrome
Fine hair, Cleft palate, High palate, Sparse hair ORPHA:251019
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Right bundle branch block, Right ventricular hypertro... ORPHA:268
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, High palate, Brittle hair ORPHA:50812
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Nicolaides-Baraitser Syndrome
High, narrow palate, Curly eyelashes, Highly arched eyebrow, Long eyelashes, Abnormal hair patter... ORPHA:3051
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Parakeratosis, Sparse hair, Palmoplantar hyperkeratosis, Alopecia OMIM:242300
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse body hair, Sparse hair ORPHA:1810
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Congenital-Onset Steinert Myotonic Dystrophy
First degree atrioventricular block, Bundle branch block, Abnormal cardiac septum morphology ORPHA:589821
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture OMIM:601957
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Thick eyebrow, Coarse hair, Synophrys ORPHA:1021
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Lelis Syndrome
Nail dystrophy, Yellow nails, Furrowed tongue, Sparse lateral eyebrow, Abnormal toenail morpholog... ORPHA:140936
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Cerebral hemorrhage, Bradycardia OMIM:617397
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Tachycardia... ORPHA:980
Noonan Syndrome 10
Hyperkeratosis, High palate, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Sparse e... OMIM:616564
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Weaver Syndrome
Thin nail, Deep-set nails, Abnormal fingernail morphology, Hypoplastic toenails, Fine hair ORPHA:3447
Mitochondrial Complex I Deficiency, Nuclear Type 37
High palate, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Noonan Syndrome 7
Abnormal esophagus morphology, Low posterior hairline, Hypertrophic cardiomyopathy, Pulmonic sten... OMIM:613706
Desbuquois Syndrome
Abnormal eyelash morphology, Ventricular septal defect, Sparse hair ORPHA:1425
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Congestive heart... ORPHA:57777
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Mitral valve prolapse, Sparse hair, Fine hair, Ventricular septal defect, Abnorma... ORPHA:444072
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Trichorrhexis nodosa, Sparse eyebrow, Sparse hair OMIM:619691
Friedreich Ataxia
Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia ORPHA:226313
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Oral leukoplakia, Sparse hair, Alopecia OMIM:616353
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Anauxetic Dysplasia 2
Nail dysplasia, Macroglossia, Sparse hair, Small nail OMIM:617396
Noonan Syndrome
Coarse hair, Abnormal hair quantity, High palate, Low posterior hairline, Hypertrophic cardiomyop... ORPHA:648
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block OMIM:616812
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Hypertension, Hyperconvex nail, Tachycardia, Atrial septal defect, Ventric... OMIM:613870
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia ORPHA:95716
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Hypertrophic cardiomyopathy, Brittle hair OMIM:618810
Cronkhite-Canada Syndrome
Hypoplastic toenails, Dystrophic fingernails, Intestinal polyposis, Stomach cancer, Dystrophic to... ORPHA:2930
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1006
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Hamamy Syndrome
Abnormal number of hair whorls, High palate, Low posterior hairline, Sparse eyelashes, Sparse lat... OMIM:611174
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Myocardial infarction, High palate, Mitral valve prolapse, Brittle hair OMIM:236200
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Generalized hirsutism, Thick eye... ORPHA:2963
Histiocytoid Cardiomyopathy
Congestive heart failure, Atrial flutter, Wolff-Parkinson-White syndrome, Tachycardia, Atrial fib... ORPHA:137675
Rapp-Hodgkin Syndrome
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... OMIM:129400
Noonan Syndrome 14
High, narrow palate, Aortic regurgitation, Hypertrophic cardiomyopathy, Low posterior hairline, P... OMIM:619745
Sheehan Syndrome
Breast hypoplasia, Orthostatic hypotension, Bradycardia, Sparse pubic hair, Sparse axillary hair,... ORPHA:91355
Blepharocheilodontic Syndrome 1
Nail dysplasia, High anterior hairline, Small nail, Distichiasis, Anal atresia, Sparse hair OMIM:119580
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Verheij Syndrome
Short neck, Truncus arteriosus, Ventricular septal defect, Branchial cyst OMIM:615583
Bohring-Opitz Syndrome
Bradycardia, Synophrys, Cleft palate, Cardiomegaly, Hypertrichosis, Abnormal cardiac septum morph... ORPHA:97297
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Necrotizing Enterocolitis
Shock, Abnormal heart morphology, Hypotension, Bradycardia ORPHA:391673
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Patent foramen ovale, Synophrys, Curly hair, Sparse eyebrow, Sparse hair, Atrial septal defect OMIM:620075
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Epidermolysis Bullosa, Lethal Acantholytic
Absent fingernail, Anonychia, Alopecia totalis, Alopecia universalis, Acantholysis OMIM:609638
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Atrial septal defe... OMIM:610198
Eem Syndrome
Sparse body hair, Sparse scalp hair, Absent eyebrow ORPHA:1897
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Plantar telangiectasia, Pa... ORPHA:69735
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, High palate, Retinal hemorrhage, Tachycardia, Ventricular septal defect OMIM:614653
Cardiofaciocutaneous Syndrome
Dystrophic fingernails, Sparse or absent eyelashes, Brittle hair, Slow-growing hair, Abnormal hea... ORPHA:1340
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Heart block, Premature ventricular contraction ORPHA:1964
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Transposition of the great arteries, Truncus arteriosus, Pulmonic stenosis, ... OMIM:620294
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Brittle hair, Progressive hypotrichosis, Sparse eyelashes, Sparse eyebrow, Cleft ... OMIM:225060
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, High palate, Hypertrichosis OMIM:618590
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Fine hair, High anterior hairline, Long eyelashes ORPHA:231137
Netherton Syndrome
Parakeratosis, Brittle hair, Sparse scalp hair, Brittle scalp hair, Sparse eyebrow, Intestinal at... OMIM:256500
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Nail dysplasia, Trichiasis, Nail dystrophy, Absent pubic hair, Hyperkeratosis, Furrowed tongue, S... OMIM:148210
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, High palate, Synophrys, Long eyelashes, Bifid uvula, Thick e... OMIM:617412
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Tiger tail banding, Sparse eyebrow, Sparse hair, Reduced hair su... OMIM:300953
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Nail dystrophy, Ridged nail, Budd-Chiari syndrome, Nail pits, Sparse h... OMIM:127550
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Hypoplastic toenails, Fine hair ORPHA:1028
Noonan Syndrome 4
High anterior hairline, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Sparse eyebro... OMIM:610733
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Congestive heart failure, Absent eyelashes, Ventricular hypertrophy, H... ORPHA:363618
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Hirsutism, Long eyelashes, Thick eyebrow, Low anterior hairline, Sparse hair OMIM:616819
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Thick hair, Portal hypertension, Sparse eyelashes, Sparse eyebrow, Sparse hair, Or... OMIM:607626
Bathing Suit Ichthyosis
Nail dystrophy, Parakeratosis, Sparse hair, Palmoplantar hyperkeratosis, Alopecia ORPHA:100976
ERI1-related disease
High palate, Pulmonary arterial hypertension, Tricuspid regurgitation, Velopharyngeal insufficien... OMIM:608739
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Sparse eye... ORPHA:1071
Oculodentodigital Dysplasia
Slow-growing hair, High palate, Fragile nails, Cleft palate, Sparse hair, Arrhythmia, Atrial sept... OMIM:164200
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Johnson Neuroectodermal Syndrome
Absent eyelashes, Absent eyebrow, Cleft palate, Tetralogy of Fallot, Sparse hair, Alopecia ORPHA:2316
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Nail dystrophy, Brittle hair, Atrial septal defect, Macroglossia, Dry hair ORPHA:93947
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture, Cardiomyopathy ORPHA:88618
Intellectual Disability, Buenos-Aires Type
Hyperconvex thumb nails, High palate, Abnormal fingernail morphology, Fine hair, Abnormal cardiac... ORPHA:3079
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Esophageal var... ORPHA:974
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Myocardial infarction, Atrioventricular canal defect, Hypertroph... ORPHA:500
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Sparse hair OMIM:619989
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Hirsutism, Low posterior hairline, Hypertrophic cardiomyopathy, Long ey... OMIM:617303
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Hyperconvex nail, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart OMIM:619721
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Aortic regurgitation, Hyperkeratosis, High palate, Sparse scalp hair, Hypertro... OMIM:607721
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Non-Acquired Isolated Growth Hormone Deficiency
Sparse hair ORPHA:631
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Woodhouse-Sakati Syndrome
Fine hair, Abnormal T-wave, Sparse hair, Alopecia OMIM:241080
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Sparse eyelashes, Sparse lateral eyebrow, Low anterior hairline, Thin eyebro... ORPHA:1787
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension, Patchy alopecia, Sparse hair OMIM:617763
Immunodeficiency 64 With Lymphoproliferation
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade... OMIM:618534
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Sparse or absent eyelashes, Sparse lateral eyebrow, Sparse hair, Fine hair, Ventr... ORPHA:217346
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Absent eyebrow, Sparse e... OMIM:614941
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Hypopigmentation of hair, Abnormality of hair texture, Pylori... ORPHA:96169
Oculodentodigital Dysplasia
Brittle hair, Slow-growing hair, Abnormality of the nail, Curly hair, Abnormal fingernail morphol... ORPHA:2710
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H... OMIM:308300
Koolen-De Vries Syndrome
Narrow palate, Abnormality of hair texture, High palate, Pulmonic stenosis, Pyloric stenosis, Cle... OMIM:610443
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dystrophy, Dystrophic fingernails, Palmoplantar hyperkeratosis, Highly arched eyebrow, Bilat... ORPHA:3253
Trichothiodystrophy 6, Nonphotosensitive
Slow-growing hair, Tiger tail banding, Brittle hair OMIM:616943
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Nail dysplasia, Nail dystrophy, Gastrointestinal hemorrhage, Oral leuk... OMIM:613990
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Uncombable hair, Abnormal hair morphology ORPHA:3082
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Fine hair, Epidermal hyperkeratosis, Sparse hair OMIM:190351
Basel-Vanagaite-Smirin-Yosef Syndrome
High palate, Furrowed tongue, Pulmonary arterial hypertension, Cleft palate, Sparse hair, Atrial ... OMIM:616449
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Oral leukoplakia, Generalized hypop... ORPHA:3322
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Transposition of the great arteries, Sparse hair OMIM:619910
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Cutis Laxa, Autosomal Recessive, Type Iia
Abnormality of hair texture, High palate, Coarse hair, Brittle hair OMIM:219200
Intellectual Developmental Disorder, Autosomal Recessive 5
Thick eyebrow, Sparse hair, Synophrys OMIM:611091
Fabry Disease
Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Angi... ORPHA:324
Netherton Syndrome
Trichorrhexis nodosa, Abnormal hair morphology, Sparse scalp hair, Sparse eyelashes, Sparse eyebr... ORPHA:634
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Syndromic Diarrhea
Trichorrhexis nodosa, Villous atrophy, Gastritis, Aortic regurgitation, Hypopigmentation of hair,... ORPHA:84064
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Immunodeficiency 27A
Lymphadenopathy, Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly OMIM:209950
Dyskeratosis Congenita, Autosomal Recessive 1
Nail dystrophy, Small nail, Palmoplantar hyperkeratosis, Sparse scalp hair, Sparse eyelashes, Pte... OMIM:224230
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Abnormal toenail morphology, Sparse hair ORPHA:1515
Hallermann-Streiff Syndrome
Congestive heart failure, High, narrow palate, Abnormality of hair texture, Glossoptosis, Sparse ... ORPHA:2108
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Aortic regurgitation, Brittle hair, Woolly hair, Curly hair, Pulmonic steno... OMIM:222470
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Nail dysplasia, Facial hirsutism, Curly eyelashes, Low posterior hairline, Curly hair, Thick eyeb... ORPHA:163654
Tetrasomy 12P
Anal atresia, Sparse eyebrow, Sparse hair, Abnormal soft palate morphology ORPHA:884
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pericardial effusion, Ventricu... ORPHA:26793
Intellectual Developmental Disorder, Autosomal Dominant 34
Coarse hair, Synophrys, Curly hair OMIM:616351
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Premature graying of hair, Nail dystrophy, Oral leukoplakia OMIM:619767
Distal Duplication 6P
Abnormal hair quantity, Fine hair, Abnormal eyelash morphology ORPHA:1745
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Premature graying of hair, Nail dysplasia, Nail dystrophy, Retinal telangiectasia, Gastrointestin... OMIM:612199
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Pachyonychia Congenita 3
Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Furrowed tongue, Oral leuko... OMIM:615726
Diamond-Blackfan Anemia 21
Aortic regurgitation, Synophrys, Horizontal eyebrow, Secundum atrial septal defect, Coarse hair, ... OMIM:620072
D-Glyceric Aciduria
Bradycardia OMIM:220120
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly OMIM:612840
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Autoimmune Lymphoproliferative Syndrome, Type Iii
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Generalized lymph... OMIM:615559
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia ORPHA:70
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
High palate, Sparse hair OMIM:620001
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Hirsutism, High palate, Woolly hair, Low anterior hairline OMIM:619244
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, High palate, Mitral valve prolapse, Curly hair OMIM:300986
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Severe Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Bradycardia, Abnormality of the nail, Anonychia, Dilated cardiomyopathy, Paronych... ORPHA:79404
Lamellar Ichthyosis
Abnormality of the nail, Hyperkeratosis, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Chops Syndrome
High, narrow palate, Thick hair, Patent foramen ovale, Anomalous pulmonary venous return, Long ey... OMIM:616368
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Sparse hair OMIM:616817
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, High palate, Sparse hair ORPHA:284180
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1806
Scorpion Envenomation
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont... ORPHA:466677
Fetal Hydantoin Syndrome
Coarse hair, Cleft palate, Hypoplastic fingernail, Low posterior hairline ORPHA:1912
Acrokeratosis Verruciformis
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholysis, Ridged nail OMIM:101900
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Dyskeratosis Congenita, Autosomal Recessive 3
Nail dystrophy, Squamous cell carcinoma of the tongue, Oral leukoplakia OMIM:613988
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Sparse hair, Atrial septal defect, Ventricular septal defect, Subvalvular a... OMIM:614114
Hypotrichosis 14
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair OMIM:618275
Scalp-Ear-Nipple Syndrome
Nail dysplasia, Congestive heart failure, Breast aplasia, Cardiac myxoma, Hypertension, Patchy al... OMIM:181270
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Abnormality of the nail, High palate, Patchy alopecia, Sparse eyelash... ORPHA:35173
Teebi-Shaltout Syndrome
High, narrow palate, Highly arched eyebrow, Slow-growing hair, Aortic valve stenosis, Cleft palat... OMIM:272950
Eisenmenger Syndrome
Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef... ORPHA:97214
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Congenital Fibrinogen Deficiency
Internal hemorrhage, Volvulus, Right ventricular hypertrophy, Left ventricular hypertrophy, Tachy... ORPHA:335
Dyskeratosis Congenita, Autosomal Recessive 8
Nail dystrophy, Pancolitis, Sparse scalp hair, Inflammation of the large intestine, Oral leukopla... OMIM:620133
Fanconi Anemia, Complementation Group S
Narrow palate, Low anterior hairline, Sparse hair, Long eyelashes OMIM:617883
Mucolipidosis Type Ii
Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic regurgitation, Patent foramen o... ORPHA:576
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Ileal atresia, Prolonged QT interval OMIM:615351
Hall-Riggs Syndrome
Slow-growing hair, Thick hair, Coarse hair ORPHA:2107
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Ventricular septal hypertrophy, Right bundle branch block OMIM:619322
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Brittle hair OMIM:614940
Cardiofaciocutaneous Syndrome 1
Slow-growing hair, Absent eyelashes, Hyperkeratosis, High palate, Hypertrophic cardiomyopathy, Ab... OMIM:115150
Dyskeratosis Congenita, Autosomal Dominant 6
Esophageal stenosis, Nail dystrophy, Oral leukoplakia OMIM:616553
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon, Prolonged QT interval, Arrhythmia ORPHA:2151
Localized Junctional Epidermolysis Bullosa
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Sparse pu... ORPHA:251393
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Oligodontia-Colorectal Cancer Syndrome
Fundic gland polyposis, Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Col... OMIM:608615
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Aplastic/hypoplastic toenail, Abnormal eyelash morphol... ORPHA:1775
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Brittle hair, Meckel diverticulum, Tiger tail banding, Pyloric stenosis OMIM:616395
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Lujo Hemorrhagic Fever
Myocarditis, Bradycardia, Hypotension, Subconjunctival hemorrhage, Shock ORPHA:319213
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Aortic regurgitation, Highly arched eyebrow, Synophrys, Thick eyebrow, Spa... OMIM:609460
Trichodermodysplasia-Dental Alterations Syndrome
Sparse or absent eyelashes, Brittle hair, Sparse scalp hair, Sparse lateral eyebrow, Aplasia/Hypo... ORPHA:3353
Holoprosencephaly
Encephalocele, Hydrocephalus, Branchial anomaly, Holoprosencephaly, Tetralogy of Fallot, Short ne... ORPHA:2162
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Cardiac conduction abnormality, Thin eyebrow, Arrhythmia, Abnormal T-wave ORPHA:2131
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Periungual erythema, Nailfold capillary tortuosity, Raynaud phenomenon, Sparse ha... OMIM:615934
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Low anterior hairline, Sparse hair, Synophrys ORPHA:391408
Orofaciodigital Syndrome I
Hypertension, High palate, Ankyloglossia, Bifid tongue, Abnormal heart morphology, Cleft palate, ... OMIM:311200
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Synophrys, Low posterior hairline, Sparse hair OMIM:619320
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Subarachnoid hemorrhage,... OMIM:232300
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Dopamine Beta-Hydroxylase Deficiency
Syncope, Orthostatic hypotension, Abnormal EKG, Orthostatic syncope ORPHA:230
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:617988
Noonan Syndrome 2
Atrioventricular canal defect, Patent foramen ovale, Hyperkeratosis, Cardiomyopathy, High palate,... OMIM:605275
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia ORPHA:90673
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation OMIM:619576
Mucopolysaccharidosis, Type Iiid
Facial hirsutism, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Thick eyebrow, Macroglossi... OMIM:252940
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Brittle hair OMIM:616084
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Short uvula, High palate, Cleft palate, Sparse hair, Aplasia/Hypoplasia of the ey... OMIM:614091
Sepsis In Premature Infants
Tachycardia, Enterocolitis, Hypotension, Bradycardia ORPHA:90051
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Hirsutism, Cardiomyopathy, Thick eyebrow, Macroglossia, Coarse hair OMIM:253220
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia ORPHA:177
Onychotrichodysplasia And Neutropenia
Trichorrhexis nodosa, Hypoplastic fingernail, Curly eyelashes, Curly hair, Short eyelashes, Spars... OMIM:258360
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Activated Pi3K-Delta Syndrome
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hirsutism, Sparse hair OMIM:618087
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorrhage, Myocarditis, Reti... ORPHA:99827
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Revesz Syndrome
Nail dystrophy, Nail pits, Ridged fingernail, Sparse hair, Oral leukoplakia, Fine hair OMIM:268130
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Synophrys OMIM:619428
Pemphigus Vulgaris
Alopecia of scalp, Acantholysis ORPHA:704
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Sparse body hair, Cleft pala... OMIM:106260
Trichorhinophalangeal Syndrome Type 1
Leukonychia, High palate, Sparse eyelashes, Sparse eyebrow, Fragile nails, Sparse hair ORPHA:77258
Dyskeratosis Congenita, Autosomal Recessive 2
Nail dystrophy, Oral leukoplakia OMIM:613987
Adult Syndrome
Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ... ORPHA:978
Joubert Syndrome 37
High palate, Sparse hair OMIM:619185
Ifap Syndrome 2
Nail dystrophy, Atrichia, Sparse hair OMIM:619016
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Fine hair, Synophrys, Long eyelashes OMIM:620250
Adiposis Dolorosa
Xerostomia, Sparse pubic hair, Telangiectasia of the skin, Sparse axillary hair ORPHA:36397
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Palmoplantar keratoderma, Fragile nails, Sparse hair, Alopecia OMIM:242150
Encephalitis Lethargica
Bradycardia ORPHA:83600
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr... ORPHA:251274
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, Subretinal pigment epithelium hemorrhage, High palate, Sparse hair, Coarse hair ORPHA:357074
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Sparse hair OMIM:614105
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar keratoderma, Abnormal fingernail morphology, Sparse hair, Alopecia ORPHA:659
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair, High palate ORPHA:363686
Trichorhinophalangeal Syndrome, Type I
Narrow palate, Leukonychia, Thin nail, Slow-growing hair, Sparse scalp hair, Sparse lateral eyebr... OMIM:190350
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Pulmonic stenosis, Cleft palate, Mitral valve prolapse, Bundle branc... OMIM:151100
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Thick hair, Reduced left ventricular ejection fraction, Hirsuti... ORPHA:581
Schimke Immunoosseous Dysplasia
Hypertension, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypertension, Fine... OMIM:242900
Simpson-Golabi-Behmel Syndrome
Nail dysplasia, High, narrow palate, Prolonged QT interval, Small nail, Cardiomyopathy, Cleft pal... ORPHA:373
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Highly arched eyebrow, Low posterior hairline, Curly hair, Thick eyebrow, Atrial septal defect, V... OMIM:617360
Chromosome 5P13 Duplication Syndrome
High palate, Low posterior hairline, Sparse hair OMIM:613174
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Anal stenosis, Esophageal atresia, Sparse eyelashes, Sparse eyebrow, Spars... OMIM:250250
Bone Marrow Failure Syndrome 5
Nail dystrophy, Oral leukoplakia OMIM:618165
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Alopecia ORPHA:228390
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171420
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair OMIM:300869
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Facial hirsutism, Thick hair, Highly arched eyebrow, Patent foramen ova... ORPHA:444077
Dyskeratosis Congenita, Digenic
Sparse eyelashes, Nail dystrophy, Oral leukoplakia, Alopecia OMIM:620040
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Hyperkeratosis with erythema, Sparse hair OMIM:118650
Trichothiodystrophy
Dystrophic fingernails, Alopecia of scalp, High, narrow palate, Ridged nail, Brittle hair, Cardio... ORPHA:33364
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Low posterior hairline, Aortic valve stenosis, Sparse hair, Bicuspid aorti... OMIM:613563
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Arterial rupture, Nail dysplasia, Coarse hair OMIM:612394
Retinitis Pigmentosa With Or Without Skeletal Anomalies
High anterior hairline, Small nail, Sparse eyelashes, Sparse eyebrow, Sparse hair, Ventricular se... OMIM:250410
Neuroleptic Malignant Syndrome
Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Arrhythmia, Tachycardia, Pulmonary e... ORPHA:94093
Chromosome 19Q13.11 Deletion Syndrome, Distal
Nail dysplasia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Abnormal cardiac septum morphology OMIM:613026
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia OMIM:277400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Nail dystrophy, Sparse hair ORPHA:98813
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Cerebrofaciothoracic Dysplasia
Low posterior hairline, Synophrys, Cleft palate, Abnormal hair pattern, Thick eyebrow, Coarse hair ORPHA:1394
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Refsum Disease
Nail dysplasia, Heart block, Cardiomyopathy ORPHA:773
Costello Syndrome
Thin nail, High palate, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Deep-set nail... OMIM:218040
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Hallermann-Streiff Syndrome
Narrow palate, High, narrow palate, Hypertension, High palate, Sparse scalp hair, Pulmonary arter... OMIM:234100
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair OMIM:268020
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Hypertension, Glossoptosis, High palate, Dysplastic aortic v... OMIM:602535
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Brittle hair, Sparse hair, Submucous cleft hard palate, Fine hair OMIM:618891
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Oral leukoplakia, Folli... OMIM:148500
Ritscher-Schinzel Syndrome 4
Narrow palate, High palate, Curly hair OMIM:619435
Auriculocondylar Syndrome 2B
Sparse hair, Synophrys OMIM:620458
Double Outlet Right Ventricle
Tachycardia, Truncus arteriosus, Pulmonic stenosis, Intestinal malrotation, Cleft palate, Tetralo... ORPHA:3426
Hereditary Acrokeratotic Poikiloderma
Nail dystrophy, Dystrophic fingernails, Palmoplantar hyperkeratosis, Dystrophic toenail, Ankylogl... ORPHA:2907
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, High palate, Long eyelashes, Sparse eyebrow, Mitral regurgitation, Fine hai... ORPHA:261349
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Nephroblastoma
Lymphadenopathy ORPHA:654
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, High palate, Sparse hair, Brittle hair OMIM:608612
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Abnormal toenail morphology, Sparse hair, Alopecia ORPHA:1005
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent hair, Nail dystrophy, Trichorrhexis nodosa, Ridged nail, Abnormality of the nail, Sparse s... ORPHA:1010
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Anal atresia, Intestinal malrotation, Pyloric stenosis, Abnormal he... OMIM:305450
Papillon-Lefèvre Syndrome
Nail dystrophy, Abnormality of the nail, Sparse body hair, Abnormal fingernail morphology, Genera... ORPHA:678
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Sparse eyebrow, Sparse hair OMIM:224900
Congenital Disorder Of Glycosylation, Type Iia
Hirsutism, Long eyelashes, Protruding tongue, Thick eyebrow, Sparse hair, Ventricular septal defect OMIM:212066
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair OMIM:618253
Lateral Meningocele Syndrome
High palate, Cleft palate, Bicuspid aortic valve, Ventricular septal defect, Coarse hair OMIM:130720
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, High palate, Cleft palate, Synco... OMIM:170390
Bor Syndrome
Branchial cyst ORPHA:107
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Bradycardia ORPHA:90674
Macrocephaly/Autism Syndrome
High palate, Coarse hair OMIM:605309
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Low anterior hairline, Dry hair OMIM:618569
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abnormal myocardium morphology, Acantholysis, Esophageal stricture, ... ORPHA:36426
Mandibuloacral Dysplasia
Hypoplastic fingernail, Abnormal tongue morphology, High palate, Sparse hair, Alopecia ORPHA:2457
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Galloway-Mowat Syndrome 9
Hiatus hernia, Coarse hair OMIM:619603
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Curly hair ORPHA:457485
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Lymphadenopathy, Asplenia OMIM:614034
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:615122
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Nail dystrophy, Anteriorly placed anus, Absent eyelashes, High palate,... OMIM:268400
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair ORPHA:2234
Osteogenesis Imperfecta, Type Xx
Narrow palate, Highly arched eyebrow, High palate, Sparse lateral eyebrow, Sparse hair OMIM:618644
Woodhouse-Sakati Syndrome
Alopecia, Abnormal T-wave, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Trichohepatoneurodevelopmental Syndrome
Steatorrhea, Thoracic hypertrichosis, Hypoplastic nipples, High palate, Woolly hair, Curly hair, ... OMIM:618268
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Increased nuchal translucency, Abnormal heart morphology, Cystic hygroma, Bicu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Increased nuchal translucency, Abnormal heart morphology, Cystic hygroma, Bicu... ORPHA:352665
African Trypanosomiasis
Myocarditis, Congestive heart failure, Alopecia, Pericarditis, Arrhythmia, Third degree atriovent... ORPHA:3385
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Chime Syndrome
Pulmonary valve atresia, Transposition of the great arteries, Hyperkeratosis, Cleft palate, Tetra... ORPHA:3474
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Low anterior hairline, Coarse hair ORPHA:2095
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Cleft palate, Sparse hair, Fine hair, Ventricular septal defect ORPHA:251028
Cerebellofaciodental Syndrome
Fine hair, Ventricular septal defect, Sparse eyebrow, Mitral valve prolapse OMIM:616202
Cartilage-Hair Hypoplasia
Heart block, Aganglionic megacolon, Cardiomyopathy, Sparse eyebrow, Sparse hair, Abnormal cardiac... ORPHA:175
Borjeson-Forssman-Lehmann Syndrome
Thick eyebrow, Sparse hair ORPHA:127
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Craniolenticulosutural Dysplasia
Coarse hair, High palate, Sparse hair, Brittle hair ORPHA:50814
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Intestinal perforation, Tracheoesophageal fistula, Abnormal myocardi... ORPHA:537
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Curly hair ORPHA:85184
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Anal stenosis, Prolonged QT interval, Sparse scalp hair, Pulmonary arterial hypertension OMIM:620029
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Genitopatellar Syndrome
Atrial septal defect, Fine hair, Sparse scalp hair ORPHA:85201
Kid Syndrome
Trichilemmoma, Nail dystrophy, Corneal neovascularization, Follicular hyperkeratosis, Scarring al... ORPHA:477
Mucolipidosis Ii Alpha/Beta
Congestive heart failure, Aortic regurgitation, Brittle hair, Hypertrophic cardiomyopathy, Sparse... OMIM:252500
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplastic/hypoplastic toenail, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Fine hair, Supernu... ORPHA:1812
Garg-Mishra Progeroid Syndrome
Sparse hair, Small nail OMIM:620601
Ogden Syndrome
Left atrial enlargement, Narrow palate, Perimembranous ventricular septal defect, Cardiomegaly, P... OMIM:300855
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Absent eyelashes, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of the ec... OMIM:305100
Frontonasal Dysplasia 2
Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair OMIM:613451
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Scimitar Syndrome
Congestive heart failure, Tricuspid atresia, Partial anomalous pulmonary venous return, Dextrocar... ORPHA:185
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Sparse hair OMIM:616541
Papa Syndrome
Lymphadenopathy ORPHA:69126
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair OMIM:219150
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis, Fine hair, Sparse hair OMIM:614438
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair OMIM:616200
Warty Dyskeratoma
Neoplasm of the tongue, Abnormal fingernail morphology, Acantholysis ORPHA:69745
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst ORPHA:2260
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Low posterior hairline, Ventricular septal ... ORPHA:261337
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Intestinal per... ORPHA:90068
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Orofaciodigital Syndrome Type 1
Brittle hair, Hypertension, High palate, Cleft palate, Lobulated tongue, Sparse hair, Tongue nodu... ORPHA:2750
Meier-Gorlin Syndrome 7
Heart block, Anal stenosis, Breast aplasia, High palate, Anal atresia, Cleft palate, Duodenal ste... OMIM:617063
Combined Immunodeficiency-Enteropathy Spectrum
Nail dystrophy, Alopecia of scalp, Rectal abscess, Absent eyebrow, Intestinal malrotation, Jejuno... ORPHA:436252
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair ORPHA:1786
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Plantar hyperkeratosis, Oral leukoplakia OMIM:615735
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hypertrophic car... ORPHA:308552
Darier-White Disease
Enlargement of parotid gland, Acantholysis, Ridged nail, Subungual hyperkeratotic fragments OMIM:124200
White-Sutton Syndrome
Patent foramen ovale, High palate, Bifid uvula, Cleft palate, Sparse hair, Atrial septal defect OMIM:616364
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly OMIM:618935
Gitelman Syndrome
Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Per... ORPHA:358
Myhre Syndrome
Hypertension, Aortic valve stenosis, Pericardial effusion, Cleft palate, Fine hair, Thick eyebrow... OMIM:139210
Craniolenticulosutural Dysplasia
Brittle hair, High palate, Bifid uvula, Cleft palate, Sparse hair, Coarse hair OMIM:607812
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Tricuspid regurgitation, Synophrys, Orthokeratotic hyperkeratosis, T... ORPHA:73223
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture, Esophagitis ORPHA:79351
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, High palate, Tricuspid regurgitation, Pulmonary arterial hy... OMIM:614437
Multiple Sulfatase Deficiency
Thick eyebrow, Coarse hair ORPHA:585
Down Syndrome
Narrow palate, Atrioventricular canal defect, Aganglionic megacolon, Duodenal atresia, Anal atres... ORPHA:870
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Hajdu-Cheney Syndrome
Synophrys, Aortic valve stenosis, Intestinal malrotation, Abnormal fingernail morphology, Mitral ... ORPHA:955
Trisomy 20P
Thick hair, Highly arched eyebrow, Ectopic anus, Low posterior hairline, Low anterior hairline, T... ORPHA:261318
Mandibuloacral Dysplasia Progeroid Syndrome
Nail dystrophy, Palmoplantar hyperkeratosis, Patent foramen ovale, High palate, Mitral valve calc... OMIM:619127
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Macs Syndrome
Sparse eyebrow, High palate, Sparse hair, Alopecia OMIM:613075
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Eec Syndrome
Nail dystrophy, Slow-growing hair, Xerostomia, Hyperkeratosis, Sparse eyebrow, Nail pits, Thick e... ORPHA:1896
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:3226
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Branchial fistula ORPHA:261330
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Fine hair, Thick eyebrow OMIM:614800
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Nail dysplasia, Intestinal malrotation, Volvulus, Cerebral hemorrhage, Sparse hair, Ventricular s... OMIM:616682
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:601859
Marshall Syndrome
High palate, Sparse eyelashes, Sparse eyebrow, Cleft palate, Sparse hair ORPHA:560
Melnick-Needles Syndrome
Tricuspid valve prolapse, Pulmonary arterial hypertension, Frontal hirsutism, Cleft palate, Mitra... OMIM:309350
Marburg Hemorrhagic Fever
Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj... ORPHA:99826
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Hirsutism, High palate, Synophrys, Long eyelashes, Intestinal malrotation,... OMIM:615485
Rothmund-Thomson Syndrome
Nail dysplasia, Palmar hyperkeratosis, Small nail, Abnormality of the nail, Sparse eyelashes, Spa... ORPHA:2909
Fontaine Progeroid Syndrome
High, narrow palate, Small nail, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Synophrys... OMIM:612289
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:603909
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
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 eyelashes, Fine hair, Sparse hair OMIM:257850
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2637
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Glass Syndrome
Nail dysplasia, High palate, Long eyelashes, Cleft palate, Sparse hair OMIM:612313
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair, Tracheoesophageal fistula ORPHA:3068
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Abnormality of hair texture, Abnormal pulmonary valve morphology ORPHA:667
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Highly arched eyebrow, Hypoplastic nipples, Sparse lateral e... OMIM:280000
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,... ORPHA:542323
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Scarf Syndrome
Hypoplastic nipples, Low posterior hairline, Sparse hair ORPHA:3134
Craniofrontonasal Syndrome
Breast hypoplasia, Ridged nail, Unilateral breast hypoplasia, Low posterior hairline, Curly hair,... OMIM:304110
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Thick eyebrow, Prolonged QT interval, Synophrys ORPHA:529962
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Muscular ventricular septal defect, Prolonged QT interval ORPHA:66634
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Absent eyelashes, Hypoplastic nipples, High palate, Sparse eyelashes, Spar... OMIM:608156
Tooth Agenesis, Selective, 4
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse body hair, Short eyelashes,... OMIM:150400
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular fibrillation, Ve... OMIM:616878
Neurocardiofaciodigital Syndrome
Double inlet left ventricle, High palate, Sparse eyebrow, Tetralogy of Fallot, Sparse hair, Atria... OMIM:619869
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Kaufman Oculocerebrofacial Syndrome
High palate, Intestinal malrotation, Sparse eyebrow, Sparse hair, Atrial septal defect, Ventricul... OMIM:244450
Zttk Syndrome
Broad eyebrow, Aortic regurgitation, Intestinal atresia, High palate, Curly hair, Submucous cleft... OMIM:617140
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Patent foramen ovale, Right bundle branch block, High palate, Tricuspid reg... OMIM:617402
Cranioectodermal Dysplasia 3
Short nail, Fine hair, Broad nail, Sparse hair OMIM:614099
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Hawkinsinuria
Sparse hair OMIM:140350
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Intestinal pseudo-obstruction, Atrial fibrillation, Suprav... ORPHA:273
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Nail dysplasia, Absence of Stensen duct, Rectovaginal fistula, Xerostomia, Hyperkeratosis, Hypopl... OMIM:129900
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Bradycardia OMIM:218700
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Kindler Syndrome
Anal stenosis, Ridged nail, Palmoplantar hyperkeratosis, Telangiectasia of the skin, Oral leukopl... OMIM:173650
Familial Mediterranean Fever
Intestinal obstruction, Vasculitis, Pericarditis, Arrhythmia, Oral leukoplakia, Myocardial infarc... ORPHA:342
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Cockayne Syndrome B
Abnormal hair morphology, Hypertension, Sparse hair, Arrhythmia, Dry hair OMIM:133540
Griscelli Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:381
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, High palate, Coarse hair, Widow's peak ORPHA:1974
Gapo Syndrome
Nail dysplasia, Breast hypoplasia, High, narrow palate, Hypoplastic nipples, Sparse eyelashes, Sp... OMIM:230740
Scalp-Ear-Nipple Syndrome
Abnormal fingernail morphology, Hypertension, Sparse hair, Breast aplasia ORPHA:2036
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy, Atrial septal d... OMIM:617403
Primary Myelofibrosis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:824
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Alg3-Cdg
Neural tube defect ORPHA:79321
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Bradycardia ORPHA:226307
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair OMIM:302960
Cranioectodermal Dysplasia 1
High, narrow palate, Thin nail, Slow-growing hair, High palate, Short nail, Sparse hair, Bicuspid... OMIM:218330
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cleft palate, Sparse hair OMIM:615349
Renpenning Syndrome 1
Situs inversus totalis, Brittle hair, High palate, Anal atresia, Sparse lateral eyebrow, Cleft pa... OMIM:309500
Scarf Syndrome
Hypoplastic nipples, Low anterior hairline, Low posterior hairline, Sparse hair OMIM:312830
Ectodermal Dysplasia-Skin Fragility Syndrome
Nail dystrophy, Anoperineal fistula, Abnormal tongue morphology, Sparse hair, Palmoplantar kerato... ORPHA:158668
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, Aganglionic megacolon, White hair ORPHA:935
Nicolaides-Baraitser Syndrome
High, narrow palate, Sparse scalp hair, Low posterior hairline, Long eyelashes, Absent eyebrow, L... OMIM:601358
Bone Marrow Failure Syndrome 3
Nail dystrophy, Small nail, Hyperkeratosis, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:617052
Cranioectodermal Dysplasia 2
Patent foramen ovale, Hypertension, High palate, Sparse eyelashes, Sparse eyebrow, Cleft palate, ... OMIM:613610
Argininosuccinic Aciduria
Trichorrhexis nodosa, Dry hair, Brittle hair OMIM:207900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, High palate, Sparse scalp hair, Sparse lateral eyebrow, Submucous... ORPHA:235
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal ... OMIM:614947
Lysinuric Protein Intolerance
Fine hair, Pulmonary hemorrhage, Sparse hair OMIM:222700
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Nail dystrophy, Small nail, Patent foramen ovale, Hypoplastic nipples, Absent nipple, Pulmonary a... OMIM:620186
Weaver Syndrome
Deep-set nails, Fine hair, Thin nail, Sparse hair OMIM:277590
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Woolly hair, Intracranial hemorrhage, Spar... ORPHA:565
Occipital Horn Syndrome
Coarse hair, Orthostatic hypotension, High palate, Pili torti, Hiatus hernia OMIM:304150
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri... ORPHA:99829
De Barsy Syndrome
Ventricular septal defect, High palate, Sparse hair ORPHA:2962
Cockayne Syndrome Type 3
Premature graying of hair, Increased blood pressure, Cardiomyopathy, Retinal hemorrhage, Subdural... ORPHA:90324
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Noonan Syndrome 1
High, narrow palate, High palate, Low posterior hairline, Hypertrophic cardiomyopathy, Pulmonic s... OMIM:163950
Castleman Disease
Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:160
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Cockayne Syndrome A
Dry hair, Hypertension, Sparse hair, Arrhythmia OMIM:216400
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy OMIM:301078
Atypical Werner Syndrome
Premature graying of hair, Aplasia/Hypoplasia of the eyebrow, Congestive heart failure, Abnormal ... ORPHA:79474
Rothmund-Thomson Syndrome Type 1
Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alope... ORPHA:221008
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia, Car... ORPHA:228308
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Nail dystrophy, Ridged nail, Anal mucosal leukoplakia, Esophageal stri... OMIM:305000
45,X/46,Xy Mixed Gonadal Dysgenesis
Nail dysplasia, Prolonged QT interval, Tachycardia, High palate, Low posterior hairline, Bicuspid... ORPHA:1772
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Patent foramen ovale, Portal hypertension, Pulmonary arterial hypertension, Sparse hair, Atrial s... OMIM:620005
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres... ORPHA:466650
Immunodeficiency 97 With Autoinflammation
Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:619802
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Spina bifida occulta, Truncus arteriosus, Dysplastic aortic valve,... ORPHA:508488
Ethylene Glycol Poisoning
Congestive heart failure, Prolonged QT interval, Gastritis, Atrial fibrillation, Hypertension, Hy... ORPHA:31826
Tafro Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:457077
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Muscular ventricular septal defect, Patent foramen ovale, Hypertension, Hyperkeratosis, Sparse sc... OMIM:210710
Treacher-Collins Syndrome
Branchial fistula, Encephalocele ORPHA:861
Distal Deletion 12Q
High, narrow palate, Esophageal atresia, Small nail, Patent foramen ovale, Pyloric stenosis, Cong... ORPHA:96149
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171300
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy ORPHA:98850
Intellectual Developmental Disorder, X-Linked, Syndromic 33
High, narrow palate, Toenail dysplasia, Hirsutism, Synophrys, Sparse hair OMIM:300966
Ectodermal Dysplasia And Immunodeficiency 1
Aplasia of the eccrine sweat glands, Sparse hair OMIM:300291
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Prolonged QT interval, Ileus OMIM:300352
Chand Syndrome
Nail dysplasia, Bifid tongue, Cleft palate, Curly hair ORPHA:1401
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Immunodeficiency 10
Lymphadenopathy, Splenomegaly OMIM:612783
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly ORPHA:169090
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Smooth tongue, Sparse hair OMIM:601559
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis, Sparse hair, Palmoplantar hyperkeratosis OMIM:601812
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Nail dysplasia, Breast hypoplasia, Sparse hair, Small nail OMIM:614813
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Absent eyelashes, Absent eyebrow, Abnormal hair pattern, Sparse hair, Fine hair ORPHA:920
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:85450
Restrictive Dermopathy
Transposition of the great arteries, Generalized hyperkeratosis, Dextrocardia, Sparse or absent e... ORPHA:1662
Felty Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:47612
Monosomy 22
High palate, Sparse hair, Synophrys ORPHA:96123
Holt-Oram Syndrome
Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle, Perimembranous ventricul... OMIM:142900
Rothmund-Thomson Syndrome Type 2
Nail dysplasia, Sparse or absent eyelashes, High palate, Cleft palate, Sparse hair, Aplasia/Hypop... ORPHA:221016
Coffin-Siris Syndrome 1
Lumbosacral hirsutism, Duodenal ulcer, Gastric ulcer, High palate, Sparse scalp hair, Long eyelas... OMIM:135900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Transposition of the great arteries, Muscular ventricular septal defect, Medial flaring of the ey... OMIM:619503
Adrenomyeloneuropathy
Fine hair, Frontal balding ORPHA:139399
Coffin-Lowry Syndrome
Narrow palate, Rectal prolapse, Hyperconvex fingernails, Highly arched eyebrow, High palate, Thic... OMIM:303600
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Breast hypoplasia, Alopecia of scalp, Abnormal eyebrow morphology, Sparse eyebrow, Sparse pubic h... ORPHA:2232
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:829
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Brittle hair OMIM:124000
Normosmic Congenital Hypogonadotropic Hypogonadism
Breast hypoplasia, Sparse body hair, Cleft palate ORPHA:432
Phosphoribosylpyrophosphate Synthetase Superactivity
High palate, Sparse hair OMIM:300661
Gitelman Syndrome
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia OMIM:263800
Chilton-Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Patent foramen ovale, Sparse scalp hair, Ankyloglossia, Synophrys, Sparse ... OMIM:619841
Leprosy
Loss of eyelashes, Hyperkeratosis, Absent eyebrow, Sparse body hair, Epistaxis, Alopecia ORPHA:548
Legionnaires Disease
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:549
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Dyskeratosis, Hereditary Benign Intraepithelial
Oral leukoplakia OMIM:127600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High anterior hairline, High, narrow palate, Cleft soft palate, Ankyloglossia, Long eyelashes, Sp... OMIM:619950
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Ventricular fibrillation, Palpitations, Shortened PR interval, Second degr... ORPHA:79102
Dpagt1-Cdg
Prolonged QT interval, Intracranial hemorrhage, Hypertrichosis ORPHA:86309
Liver Disease, Severe Congenital
Left atrial enlargement, Nail dystrophy, Protein-losing enteropathy, Chronic gastritis, Patent fo... OMIM:619991
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Prolonged QT interval, Hyperconvex fingernails, Hypertension, High palate, L... ORPHA:99413
Mosaic Monosomy X
High, narrow palate, Prolonged QT interval, Hyperconvex fingernails, Hypertension, High palate, L... ORPHA:99228
Monosomy X
High, narrow palate, Prolonged QT interval, Hyperconvex fingernails, Hypertension, High palate, L... ORPHA:99226
Turner Syndrome
High, narrow palate, Prolonged QT interval, Hyperconvex fingernails, Hypertension, High palate, L... ORPHA:881
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Parakeratosis, Pyloric stenosis, Cleft palate, Coarse hair ORPHA:83617
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis OMIM:618986
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Intellectual Developmental Disorder, Autosomal Dominant 68
High palate, Sparse hair OMIM:619934
Focal Dermal Hypoplasia
Nail dysplasia, Nail dystrophy, Ridged nail, Brittle hair, Anteriorly placed anus, Hypoplastic ni... OMIM:305600
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis ORPHA:455
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Lymphadenopathy, Splenomegaly ORPHA:436159
Mixed Connective Tissue Disease
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly OMIM:614700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Ulnar-Mammary Syndrome
Breast hypoplasia, Anal stenosis, Hypoplastic nipples, Anal atresia, Sparse lateral eyebrow, Pylo... OMIM:181450
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Scimitar anomaly, Coronary s... OMIM:618280
Ectodermal Dysplasia And Immunodeficiency 2
Aplasia of the sweat glands, Sparse scalp hair, Sparse hair OMIM:612132
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
White Sponge Nevus 1
Oral leukoplakia OMIM:193900
Trichorhinophalangeal Syndrome, Type Ii
Alopecia of scalp, Chronic gastritis, Sparse scalp hair, Fragile nails, Thick eyebrow, Right vent... OMIM:150230
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:260920
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplastic nipples, Cardiomyopathy, High palate, Anal atresia, Curly hair, Cleft palate, Atrial ... ORPHA:480880
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nail dystrophy, Sparse scalp hair, Sparse eyelashes, Onycholysis, Sparse eyebrow, Fine hair OMIM:614748
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Broad lateral eyebrow, Transient ischemic attack, Curly hair, Sparse eyebrow, Ab... ORPHA:500150
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Neuroocular Syndrome
Short uvula, Brittle hair, Highly arched eyebrow, Small nail, Patent foramen ovale, Distichiasis,... OMIM:619539
Intellectual Developmental Disorder, Autosomal Dominant 54
Thin nail, Sparse hair OMIM:617799
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Lenz-Majewski Hyperostotic Dwarfism
Cleft palate, Anteriorly placed anus, Sparse hair, Microglossia OMIM:151050
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormal heart valve morphology, Abnormal eyelash morphology, Abnormality of... ORPHA:286
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly OMIM:267700
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertension, Sparse scalp hair, Pulmonary arterial hypertension, Sparse... OMIM:606721
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails,... ORPHA:2273
Primary Hyperoxaluria
Heart block, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Arterial occlusion ORPHA:416
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Iga Pemphigus
Acantholysis, Ulcerative colitis ORPHA:555905
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Cockayne Syndrome
Retinal hemorrhage, Fine hair, Hypertension, Dry hair ORPHA:191
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Occipital Horn Syndrome
Coarse hair, High, narrow palate, Thick hair, Esophagitis, Hiatus hernia ORPHA:198
Truncus Arteriosus
Transposition of the great arteries, Aortic regurgitation, Tachycardia, Abnormal heart valve morp... ORPHA:3384
Pemphigus Erythematosus
Acantholysis ORPHA:79480
Wrinkly Skin Syndrome
Muscular ventricular septal defect, High palate, Atrial septal dilatation, Fragile nails, Short n... OMIM:278250
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Roberts Syndrome
Cleft palate, High palate, Sparse hair ORPHA:3103
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Trichiasis, Nail dystrophy, Intestinal perforation, Anonychia, Abnormality of the anus, Acantholy... ORPHA:95455
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Lymphadenopathy, Splenomegaly, Generalized lymphadenopathy, Cervi... ORPHA:50918
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Ventricular septa... OMIM:164210
Branchiooculofacial Syndrome
Branchial anomaly, Short neck, Low posterior hairline OMIM:113620
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Loss of eyelashes, Bifid uvula, Cleft palate, Thin eyebrow, Sparse hair, Submucous cleft hard pal... ORPHA:2636
Poems Syndrome
Lymphadenopathy, Splenomegaly ORPHA:2905
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Pemphigus Foliaceus
Acantholysis ORPHA:79481
Cherubism
Submandibular lymph node enlargement OMIM:118400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Ablepharon-Macrostomia Syndrome
Hypoplastic fingernail, Absent eyelashes, Hypoplastic nipples, Absent eyebrow, Sparse hair, Anter... OMIM:200110
Wiedemann-Rautenstrauch Syndrome
Dysplastic pulmonary valve, Hirsutism, Sparse scalp hair, Synophrys, Pulmonic stenosis, Congenita... ORPHA:3455
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly OMIM:214500
Oculocerebrorenal Syndrome Of Lowe
Narrow palate, Fine hair, Sparse scalp hair ORPHA:534
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Witteveen-Kolk Syndrome
High anterior hairline, Medial flaring of the eyebrow, High, narrow palate, High palate, Fragile ... OMIM:613406
Neuroblastoma
Lymphadenopathy ORPHA:635
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Histiocytosis-Lymphadenopathy Plus Syndrome
Lymphadenopathy, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:602782
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Frontal hirsutism, Rectal prolapse, High palate, Sparse hair OMIM:617157
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Lymphadenopathy, Splenomegaly, Polysplenia, Accessory spleen OMIM:619418
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Wrinkly Skin Syndrome
High palate, Atrial septal dilatation, Sparse hair ORPHA:2834
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Tangier Disease
Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy ORPHA:31150
Q Fever
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:781
Sarcoidosis
Heart block, Abnormal cardiac ventricular function, Parotitis, Portal hypertension, Enlargement o... ORPHA:797
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Pallister-Killian Syndrome
Anal stenosis, Anteriorly placed anus, Sparse anterior scalp hair, Macroglossia, Sparse scalp hai... OMIM:601803
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Congenital Syphilis
Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Pseudohypoparathyroidism Type 1C
Prolonged QT interval ORPHA:79444
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Sparse body hair, Sparse pubic hair, Sparse axillary hair ORPHA:90796
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Shortened QT interval ORPHA:99880
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia ORPHA:2136
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Parathyroid Carcinoma
Peptic ulcer, Shortened QT interval ORPHA:143
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Menke-Hennekam Syndrome 1
High palate, Long eyelashes, Cleft palate, Thick eyebrow, Sparse hair OMIM:618332
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:615688
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy ORPHA:538
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Immunodeficiency 31C
Lymphadenopathy, Splenomegaly OMIM:614162
Pseudohypoparathyroidism Type 1A
Hypertension, Prolonged QT interval ORPHA:79443
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Autoimmune Lymphoproliferative Syndrome
Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Splenomegaly... ORPHA:3261
Chédiak-Higashi Syndrome
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:167
Coccidioidomycosis
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen ORPHA:228123
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly ORPHA:32960
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Peptic ulcer, Melena, Hypertension, Shortened QT interval ORPHA:652
Roberts-Sc Phocomelia Syndrome
High palate, Cleft palate, Sparse hair, Atrial septal defect, Ventricular septal defect OMIM:268300
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Primrose Syndrome
Dystrophic fingernails, High palate, Sparse scalp hair, Synophrys, Sparse body hair, Absent axill... OMIM:259050
Alström Syndrome
Congestive heart failure, Frontal balding, Hirsutism, Hypertension, Esophageal varix, Portal hype... ORPHA:64
Brucellosis
Lymphadenopathy, Splenomegaly, Hypersplenism ORPHA:1304
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:619381
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia ORPHA:798
Behçet Disease
Lymphadenopathy, Splenomegaly ORPHA:117
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:220386
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:256040
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Blau Syndrome
Lymphadenopathy, Splenomegaly ORPHA:90340
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Neoplasm of the thymus ORPHA:99889
Leptospirosis
Lymphadenopathy ORPHA:509
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

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

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter