Gene Summary

Name:
epidermal growth factor receptor
Synonyms:
avian erythroblastic leukemia viral (v-erb-b) oncogene homolog,  Wa5,  Errb1,  9030024J15Rik,  Erbb

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased leukocyte cell number Egfrtm1a(EUCOMM)Wtsi HET Early adult 4.77×10-06

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 171 images

Human diseases caused by Egfr 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 Egfr by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Polyhydramnios, Dehydration OMIM:616069
Neonatal Inflammatory Skin And Bowel Disease
Slow-growing scalp hair, Chronic monilial nail infection, Horizontal eyebrow, Left ventricular hy... ORPHA:294023
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Thoracic aorti... ORPHA:3093
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Stroke, Cardiomyopathy, Decreased muscle glycogen content, Left ventricu... OMIM:611556
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification OMIM:114065
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ... OMIM:132900
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Reduced left ventricular ejection fraction, Atrial fibrillation, Elevate... OMIM:612201
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Familial Bicuspid Aortic Valve
Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Aortic valve calcificat... ORPHA:402075
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Atrial septal defect, Atrial fibrillation, Aortic valve stenosis, Tetralog... OMIM:617912
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve... ORPHA:3092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Left atrial enlargement, Aortic valve stenosis OMIM:615377
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic steno... OMIM:108900
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Descending thoracic aorta aneurys... ORPHA:229
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Tr... OMIM:620067
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Aortic Valve Disease 2
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t... OMIM:614823
Grange Syndrome
Aortic regurgitation, Hypertension, Arterial stenosis, Patent ductus arteriosus, Ventricular sept... ORPHA:79094
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Dowling-Degos Disease 3
Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules, Palmar pits OMIM:615674
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Familial Isolated Café-Au-Lait Macules
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613876
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol... OMIM:614676
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Cardiac Valvular Dysplasia, X-Linked
Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T... OMIM:314400
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Woolly Hair Nevus
Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po... ORPHA:79414
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dystrophic to... OMIM:617294
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Singleton-Merten Syndrome 2
Aortic valve stenosis, Aortic valve calcification, Arrhythmia OMIM:616298
Cardiomyopathy, Familial Hypertrophic, 18
Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial... OMIM:613874
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule OMIM:615327
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Stroke, Per... OMIM:614022
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Mottled pigmentation of the trunk and proximal extremities, Hypop... OMIM:131960
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse axillary hair, Sparse hair, Fine ha... ORPHA:189
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Corneal opacity, Curly hair, Sparse eyela... OMIM:602400
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ... ORPHA:206546
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Hyperkeratosis, Generalized hirsutism ORPHA:2297
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert... OMIM:616501
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Hypermelanotic macule, Alopecia, Mixed hypo- and hyperpigmentatio... ORPHA:79397
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Aortic root aneurysm, Ascending tubular aorta aneurysm, Ascending aortic di... OMIM:619825
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Microphthalmia/Coloboma 4
Orbital cyst, Microcornea, Microphthalmia, Coloboma OMIM:251505
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Hyperpigmentation of the skin, Sparse eyebrow, Sparse ... OMIM:104100
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi... ORPHA:228410
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Hypertension, Aortopulmonary window, Abnor... ORPHA:2299
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis ORPHA:3449
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Pili Torti
Brittle hair, Abnormality of the nail, Abnormal dental enamel morphology, Abnormality of hair tex... ORPHA:2889
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano... ORPHA:99094
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic v... OMIM:615382
Aorto-Ventricular Tunnel
Congestive heart failure, Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hype... ORPHA:3400
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Patent ductus arteriosus, Aortic regurgitation, Aortic aneurysm ORPHA:98892
Cardiofaciocutaneous Syndrome 2
Absent eyebrow, Curly hair, Ptosis, Sparse hair, Fine hair OMIM:615278
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Growth delay, Sparse hair OMIM:246500
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Monilethrix
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Gaucher Disease, Type Iiic
Calcification of the aorta, Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomega... OMIM:231005
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Ptosis, Cataract, Aplas... ORPHA:1067
Atopic Keratoconjunctivitis
Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne... ORPHA:163934
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Hyperkeratosis, Multiple cafe-au-lait spots ORPHA:1336
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation, Hyperkeratosis ORPHA:315
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Microtia, Everted lower lip vermilion, Premature birth... OMIM:608013
Woolly Hair, Autosomal Dominant
Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho... OMIM:194300
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Freckling, Spotty... ORPHA:241
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Hyperkeratosis, Cafe-au-l... OMIM:145250
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Hyperkeratosis, Sparse scalp hair, Melanocytic nevus, Fine hair, Freckling, Pili to... ORPHA:1573
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... ORPHA:91387
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema... OMIM:620247
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Long nose, Short nose, Low hanging columella, Highly arched eyebrow, Anteverted ... OMIM:615866
Prolidase Deficiency
Short nose, Skin ulcer, Diffuse telangiectasia, Hepatomegaly, Facial hirsutism, Petechiae, High p... OMIM:170100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent corneal erosions, Trichiasis, Nail dystrophy, Nail dysplasia, Corneal ulceration, Absen... OMIM:148210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia ORPHA:505
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Naxos Disease
Abnormality of hair texture, Sparse scalp hair, Woolly hair, Curly hair ORPHA:34217
Luscan-Lumish Syndrome
Long nose, High anterior hairline, Mandibular prognathia, Hirsutism, Short stature, Obesity, Mala... OMIM:616831
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Pulmonic stenosis, Mitral val... OMIM:609008
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Congenital Sialidosis Type 2
Hepatomegaly, Petechiae, Generalized hypertrichosis, Gingival overgrowth, Corneal opacity, Low-se... ORPHA:93400
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Myofibrillar Myopathy 10
Ankle flexion contracture, Knee flexion contracture, Prolonged QTc interval, Elbow flexion contra... OMIM:619040
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr... ORPHA:216694
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia ORPHA:1479
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Beaulieu-Boycott-Innes Syndrome
Long nose, High anterior hairline, Premature ovarian insufficiency, Endometriosis, Low hanging co... OMIM:613680
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Bronchopulmonary Dysplasia
Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Small for gestational... ORPHA:70589
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle... ORPHA:86812
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Orbital cyst, Orbital encephalocele, Cleft palate, Agenesis of corpus ... OMIM:164180
Cronkhite-Canada Syndrome
Hypoplastic toenails, Dystrophic fingernails, Hepatomegaly, Intestinal polyposis, Stomach cancer,... ORPHA:2930
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, Aspiration pneumonia, Micrognat... ORPHA:141152
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ... OMIM:616099
Osteopenia And Sparse Hair
Osteopenia, Sparse hair OMIM:259690
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral regurgitation, Aortic regurgitation, Mitral valve prolapse OMIM:225320
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Left ventricular hy... OMIM:619048
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... ORPHA:563
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Nail dystrophy, Hypermelanotic macule, Hyperkeratosis, Mixed hypo- and hyperpigmentation of the s... ORPHA:79399
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Meconium Aspiration Syndrome
Pneumothorax, Pulmonary insufficiency, Abnormal pulmonary thoracic imaging finding, Transient pul... ORPHA:70588
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Distal Duplication 6P
Abnormal lung lobation, Thin vermilion border, Aplasia/Hypoplasia of the earlobes, Abnormal hair ... ORPHA:1745
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperpigmentation of the skin, Hyperkeratosis, Dystrophic toenail, Hypopigmentation ... ORPHA:89838
Bullous Dystrophy, Hereditary Macular Type
Short finger, Hyperpigmentation of the skin, Abnormality of the nail, Alopecia totalis, Tapered f... OMIM:302000
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... ORPHA:555877
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Placental Insufficiency
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Miscarriage, Small... ORPHA:439167
Hypotrichosis 7
Brittle hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse scalp hair, Woolly... OMIM:604379
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus OMIM:220220
Noonan Syndrome 9
Curly hair, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Prominent corneal nerve fibers OMIM:616559
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Atrophic scars, Corneal scarring, Enamel hypoplasia, Flexion cont... OMIM:226600
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Scheie Syndrome
Aortic valve stenosis, Mitral stenosis, Aortic regurgitation OMIM:607016
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Cardiofaciocutaneous Syndrome 4
Alopecia of scalp, Telecanthus, Optic nerve hypoplasia, Absent eyebrow, Sparse eyelashes, Curly h... OMIM:615280
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Thumb Deformity And Alopecia
Short stature, Alopecia OMIM:188150
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Alkaptonuria
Coronary artery calcification, Intervertebral disk calcification, Aortic aneurysm, Abnormal heart... ORPHA:56
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Slow-growing hair, Abnormality of th... OMIM:615885
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Bradycardia, Tachycardia, Cardiac arrest, Hypotension, Nasal flarin... ORPHA:70587
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Erythrokeratodermia Variabilis
Protruding ear, Cutaneous photosensitivity, Abnormal hair morphology, Abnormality of the nail, Hy... ORPHA:317
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation ORPHA:401923
Mulibrey Nanism
Cachexia ORPHA:2576
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotension, Pulmonic stenosis, Aortic... ORPHA:99147
Simosa Craniofacial Syndrome
Long nose, Abnormal hair morphology, Highly arched eyebrow, Depressed nasal tip, Sparse eyebrow, ... OMIM:182150
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral ptosis, Synophrys, Curly hair, Epicanthus, Upslanted palpebral fissure, Coarse hair OMIM:616351
Tetrasomy 12P
Telecanthus, Abnormal soft palate morphology, Delayed eruption of teeth, Cachexia, Everted lower ... ORPHA:884
C1Q Deficiency 2
Facial erythema, Atelectasis, Recurrent lower respiratory tract infections, Recurrent otitis medi... OMIM:620321
Carvajal Syndrome
Patchy palmoplantar hyperkeratosis, Woolly hair ORPHA:65282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Aneurysm Of Sinus Of Valsalva
Congestive heart failure, Aortic regurgitation, Bacterial endocarditis, Stroke, Dilatation of the... ORPHA:1054
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Nail dysplasia, Nail dystrophy, Corneal ulceration, Corneal scarring,... OMIM:256800
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Hypoplasia of the primary teeth, Dental malocclusion, Delayed eruption of teeth, Spars... OMIM:257850
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive... ORPHA:97292
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, White hair, Heter... OMIM:619947
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Congenital Syphilis
Prolonged neonatal jaundice, Premature birth, Intrauterine growth retardation, Myocarditis, Large... ORPHA:499009
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Aortic valve stenosis, Joint hemorrhage, Epistaxis, Mitral valve pro... OMIM:193400
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Gastroesophageal reflux, High palate, Dry skin, Overweight, Respiratory insufficiency due to musc... ORPHA:486815
Renpenning Syndrome
High, narrow palate, Hypospadias, Short philtrum, Cachexia, Narrow mouth, Anal atresia, Growth de... ORPHA:3242
Cataract-Deafness-Hypogonadism Syndrome
Generalized hypertrichosis, Developmental cataract ORPHA:1383
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Oliver-Mcfarlane Syndrome
Delayed puberty, Distal amyotrophy, Long eyebrows, Long eyelashes, Severe short stature, Sparse h... OMIM:275400
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Arrhythmia, Abnormal cerebral vascular morpho... ORPHA:363705
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ... OMIM:620066
Candidiasis, Familial, 1
Alopecia OMIM:114580
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Gómez-López-Hernández Syndrome
Alopecia of scalp, Corneal opacity, Toenail dysplasia, Telecanthus ORPHA:1532
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse eyebrow, Nail ... OMIM:278150
Onychotrichodysplasia And Neutropenia
Trichorrhexis nodosa, Hypoplastic fingernail, Chronic irritative conjunctivitis, Curly eyelashes,... OMIM:258360
L-Ferritin Deficiency
Alopecia OMIM:615604
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Triphalangeal thumb, Hyperpigmentation of the skin, Finger syndactyly... ORPHA:2251
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcornea, Epicanthus, Cataract, Upslanted palpebral fissure ORPHA:2528
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Aortic regurgitation OMIM:615476
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Long nose, Sparse scalp hair, Abnormal fingernail morphology, Micrognathia, Malar prominence ORPHA:2824
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Griscelli Syndrome Type 3
Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79478
Wild Type Attr Amyloidosis
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop... ORPHA:330001
Leopard Syndrome 3
Multiple lentigines, Cubitus valgus, Hyperkeratosis, Low posterior hairline, Curly hair, Few cafe... OMIM:613707
Leopard Syndrome 2
Downslanted palpebral fissures, Epicanthus, Curly hair OMIM:611554
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Absent pubic hair, Slow-growing hair, Small nail, A... OMIM:129500
Agel Amyloidosis
Bilateral ptosis, Nail dystrophy, Blepharochalasis, Keratoconjunctivitis sicca, Corneal ulceratio... ORPHA:85448
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Short stature, Interphalangeal joint contracture of finger, Thick eyebrow, Sparse hair, Knee flex... OMIM:606242
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Thin vermilion border, Retrognathia, Solitary median maxillary central incisor, S... ORPHA:217346
Mucolipidosis Iii Gamma
Claw hand deformity, Aortic regurgitation, Shoulder contracture, Finger joint contracture, Aortic... OMIM:252605
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal... ORPHA:860
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Anomalous origin of left... ORPHA:2326
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgitation, Left ventricular hypert... OMIM:619698
Acute Promyelocytic Leukemia
Abnormal bleeding, Purpura, Exertional dyspnea, Petechiae, Stomatitis, Gingival overgrowth, Gingi... ORPHA:520
Witkop Syndrome
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... OMIM:189500
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl... ORPHA:57777
Woolly Hair-Skin Fragility Syndrome
Palmoplantar keratoderma, Acantholysis, Woolly hair OMIM:620415
Waardenburg Syndrome Type 3
Atelectasis, Telecanthus, White hair, Hearing impairment, Downslanted palpebral fissures, Thick e... ORPHA:896
Acute Interstitial Pneumonia
Ground-glass opacification, Atelectasis, Hypertension, Pleural effusion, Parenchymal consolidatio... ORPHA:79126
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Paget Disease Of Bone 6
Coronary artery atherosclerosis, Left ventricular hypertrophy OMIM:616833
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Achilles ten... OMIM:615418
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Corneal opacity, Ptosis, Posterior embryotoxon, Chorioretinal coloboma, Cataract,... ORPHA:1473
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Bronchogenic Cyst
Bronchogenic cyst, Abnormal stomach morphology, Abnormal pulmonary thoracic imaging finding, Atel... ORPHA:2357
Hatipoglu Immunodeficiency Syndrome
Premature graying of hair, Recurrent otitis media, Petechiae, Recurrent bronchitis, Dry skin, Fai... OMIM:620331
Trichodental Dysplasia
Slow-growing hair, Fine hair, Sparse hair, Brittle hair OMIM:601453
Hyperchlorhidrosis, Isolated
Failure to thrive, Hypernatremic dehydration OMIM:143860
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Generalized abnormality of skin, Chronic otitis media, Dystrophic fingernails, Skin ulcer, Atelec... ORPHA:2314
Gaucher Disease, Type I
Hepatomegaly, Hypertension, Pulmonary arterial hypertension, Aortic valve stenosis, Epistaxis, Sp... OMIM:230800
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma, Preauricular hair displacement, Cleft palate OMIM:618939
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Long nose, Alopecia, Absent eyelashes, Mandibular prognathia, Sparse scalp hair, Absent eyebrow, ... OMIM:137940
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration, Weight loss ORPHA:103910
Tangier Disease
Hepatomegaly, Coronary artery atherosclerosis, Distal amyotrophy, Facial diplegia, Splenomegaly, ... OMIM:205400
Noonan Syndrome 5
Large for gestational age, Small nail, Curly hair, Ptosis, Downslanted palpebral fissures, Sparse... OMIM:611553
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Flexion contracture, Left ventricular hypertrophy OMIM:616733
Barber-Say Syndrome
Ectropion, Sparse or absent eyelashes, Telecanthus, Breast aplasia, Delayed eruption of teeth, Hy... ORPHA:1231
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Pulmonary arterial hypertension, Aortic v... ORPHA:210122
Noonan Syndrome 8
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypert... OMIM:615355
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Supravalvular Aortic Stenosis
Pulmonic stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial ... OMIM:185500
Coenzyme Q10 Deficiency, Primary, 2
Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension OMIM:614651
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Long nose, Hypospadias, Decreased body weight, Bilateral cryptorchidism, Micrognathia, Severe sho... OMIM:618336
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Atelectasis, Respiratory distress, Bronchiectasis, Recurrent respiratory in... OMIM:619466
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Noonan Syndrome 6
Bilateral ptosis, Long eyebrows, Low posterior hairline, Curly hair, Downslanted palpebral fissur... OMIM:613224
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Scarring alopecia of scalp, Abnormality of skin pigmentation, Sparse body hair, A... ORPHA:79402
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Hepatomegaly, Petechiae, Respiratory failure, Vasculitis in the skin, Splenomegaly, Recu... OMIM:620296
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Short first metatarsal, Single transverse palmar crease, Abnormal... OMIM:601957
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Abnormal palate morphology, Alopecia of scalp, Low-set, posteriorly ro... ORPHA:2617
Gaucher Disease Type 3
Hepatomegaly, Abnormal heart valve morphology, Pulmonary arterial hypertension, Mitral valve calc... ORPHA:77261
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Pulmonary infiltrates ORPHA:64741
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Coronary artery atherosclerosis, Aortic root aneurysm, Hypertension, Ve... ORPHA:363618
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory distress, Respiratory insufficiency, Dyspnea, Abnormal lung morphology, ... ORPHA:60032
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Aortic regurgitation, Aortic root aneurysm, Abnormal heart valve morphol... ORPHA:230851
Atelis Syndrome 1
Long philtrum, Microtia, High palate, Dry skin, Cataract, Carious teeth, Downslanted palpebral fi... OMIM:620184
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:28
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular systolic dysfunction, Skeletal muscle hypertrophy, Facial pa... OMIM:613156
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon... ORPHA:2306
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bilateral ptosis, Exertional dyspnea, Atelectasis, Right bundle branch block, Bronchiolitis, Dysp... ORPHA:254361
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, High-frequency hearing impairment, Otitis media, Chronic sinus... OMIM:300455
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy, Left ventricular hypertrophy OMIM:102200
Moynahan Syndrome
Short stature, Cachexia, Sparse hair, Alopecia ORPHA:2574
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Decreased response to growth hormone stimulation test, Atelectasis, C... OMIM:610978
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... OMIM:115197
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Hypohidrosis, Abnormal fingernail morphology, Abnormal toenail morpholo... ORPHA:248
Erythrokeratodermia Variabilis Et Progressiva 7
Dystrophic toenail, Woolly hair, Palmoplantar hyperkeratosis OMIM:619209
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukopenia, Leukemia OMIM:620400
Alkaptonuria
Aortic aneurysm, Thickened Achilles tendon, Mitral valve calcification, Aortic valve calcificatio... OMIM:203500
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:618228
Bartsocas-Papas Syndrome 1
Ectropion, Ectopic kidney, Small nail, Ablepharon, Intrauterine growth retardation, Cicatricial l... OMIM:263650
Pseudo-Torch Syndrome 2
Fetal distress, Hepatomegaly, Bradycardia, Petechiae, Respiratory insufficiency, Pleural effusion... OMIM:617397
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Nail dysplasia, Facial hirsutism, Curly eyelashes, Blepharophimosis, Low posterior hairline, Curl... ORPHA:163654
Central Diabetes Insipidus
Failure to thrive, Dehydration, Weight loss ORPHA:178029
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Aortic root aneurysm, Hyp... OMIM:208050
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Long nose, Wide nose, Low insertion of columella, Short stature, Broad nasal tip, Wide nasal brid... OMIM:619995
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Hy... OMIM:300280
Mcdonough Syndrome
Short palpebral fissure, Abnormal palate morphology, Short philtrum, Cachexia, Open bite, Synophr... ORPHA:2471
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia, Ankyloblepharon OMIM:611038
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Conjunctival hyperemia, Sparse bo... ORPHA:2890
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Kerion Celsi
Alopecia ORPHA:499
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory di... OMIM:615294
Pseudoprogeria Syndrome
Narrow nasal tip, Absent eyelashes, Decreased body weight, Absent eyebrow, Growth delay, Failure ... ORPHA:2985
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Atrial Fibrillation, Familial, 15
Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde... OMIM:615770
Lamellar Ichthyosis
Chronic otitis media, Ectropion, Abnormality of the nail, Hyperkeratosis, Abnormal helix morpholo... ORPHA:313
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Hypertrophic cardiomyo... OMIM:615415
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Chronic otitis media, Chronic diarrhea, Sinusitis, Epistaxis,... ORPHA:906
Fucosidosis
Thick lower lip vermilion, Hepatomegaly, Absent/hypoplastic paranasal sinuses, Petechiae, Low-set... OMIM:230000
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Hepatomegaly, Atelectasis... OMIM:620233
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Premature ovarian insufficiency, High anterior hairline, Retrognathia, Hypospadias, En... ORPHA:363444
Prolidase Deficiency
Skin ulcer, Hepatomegaly, Cutaneous photosensitivity, Hyperkeratosis, Hirsutism, Dry skin, White ... ORPHA:742
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Radio-Tartaglia Syndrome
Retrognathia, Small nail, Highly arched eyebrow, Dental crowding, Wide mouth, Dysphagia, Long phi... OMIM:619312
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Polyhydramnios, Dehydration OMIM:616069
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Intellectual Developmental Disorder, Autosomal Dominant 22
Long nose, Highly arched eyebrow, Proportionate short stature, Short stature, Growth delay, Micro... OMIM:612337
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:129490
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Flat Face-Microstomia-Ear Anomaly Syndrome
Long nose, Highly arched eyebrow, Sparse eyebrow, Micrognathia, Malar flattening, Small scrotum, ... ORPHA:1968
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Facial erythema, Hyperkeratosis, Dry skin, Developmental cataract... OMIM:212360
Aredyld Syndrome
Advanced eruption of teeth, Hepatomegaly, Cachexia, Abnormal dental enamel morphology, Narrow mou... ORPHA:1133
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Melanocytic nevus,... ORPHA:1882
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Polyhydramnios, Atelectasis, Respiratory distress, High palate, Bilateral cryptorch... OMIM:300219
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
2Q24 Microdeletion Syndrome
Microphthalmia, Abnormality iris morphology, Coloboma, Failure to thrive, Downslanted palpebral f... ORPHA:1617
Sepsis In Premature Infants
Bradycardia, Premature birth, Splenomegaly, Abnormal bleeding, Jaundice, Petechiae, Dyspnea, Nasa... ORPHA:90051
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Hypospadias, Delayed eruption of teeth, High palate, Everted lower lip ver... OMIM:619736
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Downslanted palpebral fissures, Low anterior hairline, Thin eyebrow OMIM:617392
D-2-Hydroxyglutaric Aciduria 1
Cardiomyopathy, Aortic regurgitation OMIM:600721
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Hypersensitivity pneumonitis, Abnormal pulmonary thoracic imagin... ORPHA:2902
Harrod Syndrome
Long nose, Hypospadias, Failure to thrive, Intrauterine growth retardation, Dental malocclusion, ... ORPHA:2115
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Restrictive Dermopathy
Scaling skin, Sparse or absent eyelashes, Temporomandibular joint ankylosis, Aplasia/Hypoplastia ... ORPHA:1662
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Chromosome 19Q13.11 Deletion Syndrome, Distal
Nail dysplasia, Retrognathia, Solitary median maxillary central incisor, Sparse hair, Intrauterin... OMIM:613026
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea, Premature birth, Neonatal... OMIM:267450
Reticular Dysgenesis
Failure to thrive, Dehydration, Weight loss ORPHA:33355
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Postnatal growth retardation, Long nose, Retrognathia, Medial flaring of the eyebrow, Broad eyebr... OMIM:620113
Lethal Osteosclerotic Bone Dysplasia
Short nose, Retrognathia, Gingival fibromatosis, Respiratory distress, Gingival overgrowth, Low-s... ORPHA:1832
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, 2-3 toe cutaneous syndactyly, Small nail, Patchy alopecia, Sparse scalp hair, 4-5 to... OMIM:613573
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Left ventricular outflow tract obstruction, Hypoplastic pulm... OMIM:613854
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hirsutism ORPHA:85288
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Severely reduced left ventricular eject... ORPHA:444013
Noonan Syndrome 13
Highly arched eyebrow, Low posterior hairline, Microdontia, Wide mouth, Long philtrum, Downslante... OMIM:619087
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, Short nose, Medial flaring of the eyebrow, Hypospadias, Short stature, Carious teeth, ... OMIM:617602
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Pseudo-Torch Syndrome 1
Jaundice, Hepatomegaly, Petechiae, High palate, Low-set ears, Cataract, Failure to thrive, Spleno... OMIM:251290
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Knee flexion contracture, Noncompaction cardiomyopathy, Dis... ORPHA:3208
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Follicular hyperkeratosis, Brittle hair OMIM:618546
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Tongue fasciculations, Decreased fetal movement, Respiratory failure, ... OMIM:253300
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Dental crowding, Glossoptosis, Everted lower lip vermilion, Sparse eyelashes, Cleft ... OMIM:616367
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, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Schilbach-Rott Syndrome
Long nose, Hypospadias, Short stature, Micrognathia, Prominent nose OMIM:164220
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Macroglossia, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fal... ORPHA:96147
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia ORPHA:85447
Hypercalcemia, Infantile, 1
Failure to thrive, Dehydration, Weight loss OMIM:143880
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Inguinal hernia, Sparse hair ORPHA:1174
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Ptosis, Chorioretinal coloboma, Iris coloboma OMIM:300915
Christianson Syndrome
Gastroesophageal reflux, Death in early adulthood, Cachexia, Cerebellar atrophy, Thick eyebrow, D... ORPHA:85278
Hutchinson-Gilford Progeria Syndrome
Hypertension, Ventricular hypertrophy, Aortic valve stenosis, Abnormal mitral valve morphology, E... ORPHA:740
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Delayed puberty, Hepatomegaly, Sparse eyelashes, Hypohidrosis, Sparse eyebrow, Jo... OMIM:615704
Choroidal Atrophy-Alopecia Syndrome
Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenail morphology, Bifid na... ORPHA:1433
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, First degree atrioventricular block, Atrioventricular block, Absent P wave, Pa... OMIM:310300
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension OMIM:614475
Mucolipidosis Type Iii Alpha/Beta
Congestive heart failure, Aortic regurgitation, Diastasis recti, Flexion contracture, Right ventr... ORPHA:423461
Transient Neonatal Diabetes Mellitus
Failure to thrive, Dehydration, Small for gestational age ORPHA:99886
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Curly hair, Downslanted palpebral fissures, Sparse eyebrow, Sparse hair, Epicanthus OMIM:620075
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Respiratory distress, Abnormality of the philtrum, Overfolded helix, Low-set ears... ORPHA:2759
Hallermann-Streiff Syndrome
Hypertension, Everted lower lip vermilion, Sparse hair, Fine hair, Telangiectasia, Narrow palate,... OMIM:234100
Glass Syndrome
Nail dysplasia, Long nose, Anteverted nares, Long eyelashes, Short stature, Micrognathia, Broad n... OMIM:612313
Immunodeficiency 95
Ground-glass opacification, Respiratory distress, Recurrent viral upper respiratory tract infecti... OMIM:619773
Epidermolysis Bullosa Acquisita
Nail dystrophy, Hyperpigmentation of the skin, Abnormal hair morphology ORPHA:46487
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Respiratory distress, Pleural effusion, ... ORPHA:50251
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Cortisone Reductase Deficiency 1
Infertility, Hirsutism, Precocious puberty, Oligomenorrhea, Obesity, Alopecia OMIM:604931
Sézary Syndrome
Ectropion, Nail dystrophy, Hepatomegaly, Dry skin, Splenomegaly, Abnormal pleura morphology, Palm... ORPHA:3162
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Microphthalmia, Brittle hair, Small nail, A... OMIM:234050
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome