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Gene: Egfr MGI:95294

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Gene Summary

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

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

Download data as:  TSV  XLS

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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.

Legacy Phenotype Associated Images
Egfrtm1a(EUCOMM)Wtsi
forearm, WT, Male, WTSI
Egfrtm1a(EUCOMM)Wtsi
forearm, WT, Male, WTSI
Egfrtm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Egfrtm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Egfrtm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI

View all 171 images

Egfrtm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Egfrtm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Egfrtm1a(EUCOMM)Wtsi
tail skin, WT, Female, WTSI

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
Polyhydramnios, Failure to thrive, Dehydration OMIM:616069
Neonatal Inflammatory Skin And Bowel Disease
Horizontal eyebrow, Chronic monilial nail infection, Left ventricular hypertrophy, Slow-growing s... ORPHA:294023
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell 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
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp 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
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Cardiomyopathy, Stroke, Left atrial enlargement, Left ventricu... OMIM:611556
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification OMIM:114065
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ... ORPHA:402075
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules, Palmar pits, Reticulated skin pigmentation OMIM:615674
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef... OMIM:613876
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ... OMIM:314400
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Chronic Hiccup
Weight loss, Dehydration 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, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair OMIM:620199
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia, Aortic valve calcification OMIM:616298
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula... OMIM:613874
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy... OMIM:131960
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Hidrotic Ectodermal Dysplasia
Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse... ORPHA:189
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Blepharitis, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pil... OMIM:602400
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Generalized hyperpigmentation, Hyperkeratosis ORPHA:2297
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hyp... ORPHA:79397
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, A... OMIM:619825
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair 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
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Microphthalmia/Coloboma 4
Microphthalmia, Microcornea, Coloboma, Orbital cyst OMIM:251505
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Hyperpigmentatio... OMIM:104100
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve pro... ORPHA:228410
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Pili Torti
Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Pili torti, Brittle hai... ORPHA:2889
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Nephronophthisis 16
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... OMIM:615382
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... ORPHA:3400
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Periventricular Nodular Heterotopia
Aortic regurgitation, Aortic aneurysm, Abnormal heart valve morphology, Patent ductus arteriosus ORPHA:98892
Cardiofaciocutaneous Syndrome 2
Fine hair, Ptosis, Absent eyebrow, Curly hair, Sparse hair OMIM:615278
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair, Growth delay OMIM:246500
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Gaucher Disease, Type Iiic
Aortic valve calcification, Calcification of the aorta, Mitral stenosis, Splenomegaly, Cardiomega... OMIM:231005
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Stroke-like episode, Ragged-red muscle fibers, Myopathy, Arrhythmia, Le... OMIM:540000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Hypopigmentation of ... ORPHA:1067
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Loss of eyelash... ORPHA:163934
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Irregular hyperpigmentation, Hyperkeratosis ORPHA:1336
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Abnormality of skin pigmentation ORPHA:315
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Gaucher Disease, Perinatal Lethal
Low-set ears, Everted upper lip vermilion, Hepatosplenomegaly, Micrognathia, Open mouth, Narrow m... OMIM:608013
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype... ORPHA:241
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Melanocytic nevus, Pili torti, Abnormal limb bone morphology, Freckling, Brittle hair,... ORPHA:1573
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Highly arched eyebrow, Depressed nasal bridge, Growth delay, Delayed eruption of teeth, Underdeve... OMIM:615866
Prolidase Deficiency
Recurrent pneumonia, Skin ulcer, Failure to thrive, Facial hirsutism, Micrognathia, Petechiae, Sp... OMIM:170100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Keratitis, Elbow flexion contracture, Corneal scarring, Nail dystroph... OMIM:148210
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Naxos Disease
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair ORPHA:34217
Luscan-Lumish Syndrome
Irregular menstruation, High anterior hairline, Obesity, Malar flattening, Hirsutism, Polycystic ... OMIM:616831
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... OMIM:609008
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Congenital Sialidosis Type 2
Low-set ears, Cataract, Hearing impairment, Umbilical hernia, Abnormal EKG, Hepatosplenomegaly, G... ORPHA:93400
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Carious teeth, Dental malocclusion, Micrognathia, Premature ovarian insuf... OMIM:613680
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
Right ventricular failure, Atelectasis, Respiratory distress, Emphysema, Respiratory failure requ... ORPHA:70589
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Oculocerebrocutaneous Syndrome
Alopecia, Eyelid coloboma, Orbital cyst, Agenesis of corpus callosum, Orbital encephalocele, Dand... OMIM:164180
Cronkhite-Canada Syndrome
Alopecia, Gastrointestinal carcinoma, Dystrophic toenail, Sparse body hair, Abnormal fingernail m... ORPHA:2930
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aspiration pneumonia, Respiratory distress, Temporomandibular joint ankylosis, Micr... ORPHA:141152
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg... OMIM:620236
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly... OMIM:616099
Osteopenia And Sparse Hair
Osteopenia, Sparse hair OMIM:259690
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Bradycardia, Hep... OMIM:619048
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hyperpigmentation, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin, Hypomela... ORPHA:79399
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Meconium Aspiration Syndrome
Premature rupture of membranes, Meconium stained amniotic fluid, Neonatal asphyxia, Transient pul... ORPHA:70588
Distal Duplication 6P
Low-set ears, Cataract, Aplasia/Hypoplasia of the earlobes, Fine hair, Abnormal lung lobation, Dr... ORPHA:1745
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Dystrophic toenail, Palmoplantar blistering, Abnormal fingernail mo... ORPHA:89838
Bullous Dystrophy, Hereditary Macular Type
Short finger, Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail, Tapered f... OMIM:302000
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Placental Insufficiency
Small placenta, Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Mi... ORPHA:439167
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... 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
Sparse eyebrow, Downslanted palpebral fissures, Prominent corneal nerve fibers, Ptosis, Curly hair OMIM:616559
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Alopecia, Atrophic scars, Corneal scarring, Nail dystrophy, Nail dysplasia, Enamel hypo... OMIM:226600
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis OMIM:607016
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiofaciocutaneous Syndrome 4
Cataract, Telecanthus, Alopecia of scalp, Sparse eyelashes, Epicanthus, Ptosis, Absent eyebrow, C... 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
Aortic valve stenosis, Aortic valve calcification, Atherosclerosis, Abnormal heart valve morpholo... ORPHA:56
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Card... ORPHA:70587
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Erythrokeratodermia Variabilis
Erythema, Alopecia, Cataract, Hearing impairment, Abnormal hair morphology, Dry skin, Patchy palm... ORPHA:317
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy ORPHA:401923
Mulibrey Nanism
Cachexia ORPHA:2576
Asbestos Intoxication
Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ... ORPHA:2302
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Simosa Craniofacial Syndrome
Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Underdeveloped nasal alae, Abnormal hai... OMIM:182150
Intellectual Developmental Disorder, Autosomal Dominant 34
Coarse hair, Bilateral ptosis, Upslanted palpebral fissure, Epicanthus, Curly hair, Synophrys OMIM:616351
Tetrasomy 12P
Sparse eyebrow, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick uppe... ORPHA:884
C1Q Deficiency 2
Atelectasis, Recurrent otitis media, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurre... OMIM:620321
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Carvajal Syndrome
Patchy palmoplantar hyperkeratosis, Woolly hair ORPHA:65282
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Stroke, Heart murmur, Dil... ORPHA:1054
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal erosions, Nail dysplasia, Opacific... OMIM:256800
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Anophthalmia, Microphthalmia ORPHA:85275
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Congenital Syphilis
Diarrhea, Hearing impairment, Hyperplasia of the maxilla, Hepatosplenomegaly, Large placenta, Hig... ORPHA:499009
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, M... OMIM:193400
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Gastroesophageal reflux, Dry skin, Cryptorchidism, Follicular hyperkeratosis, High palate, Recurr... ORPHA:486815
Renpenning Syndrome
High, narrow palate, Severe short stature, Alopecia, Abnormal hairshaft morphology, Growth delay,... ORPHA:3242
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract, Generalized hypertrichosis ORPHA:1383
Oliver-Mcfarlane Syndrome
Severe short stature, Alopecia, Distal amyotrophy, Long eyelashes, Delayed puberty, Long eyebrows... OMIM:275400
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Large for gestational age, Corneal opacity ORPHA:2432
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Candidiasis, Familial, 1
Alopecia OMIM:114580
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Gómez-López-Hernández Syndrome
Telecanthus, Toenail dysplasia, Alopecia of scalp, Corneal opacity ORPHA:1532
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
L-Ferritin Deficiency
Alopecia OMIM:615604
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Hypopigmente... ORPHA:2251
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Upslanted palpebral fissure, Epicanthus, Microphthalmia ORPHA:2528
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect OMIM:615476
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Abnormal fingernail morphology, Malar prominence, Micrognathia, Long nose, Sparse scalp hair 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, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Leopard Syndrome 3
Multiple lentigines, Few cafe-au-lait spots, Low posterior hairline, Cubitus valgus, Curly hair, ... OMIM:613707
Leopard Syndrome 2
Downslanted palpebral fissures, Epicanthus, Curly hair OMIM:611554
Agel Amyloidosis
Cataract, Xerostomia, Bruising susceptibility, Cardiomyopathy, Hearing impairment, Bilateral ptos... ORPHA:85448
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail d... OMIM:129500
Kondoh Syndrome
Interphalangeal joint contracture of finger, Intrauterine growth retardation, Thick eyebrow, Knee... OMIM:606242
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
19Q13.11 Microdeletion Syndrome
Cataract, Microcornea, Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Retrognathia, Dry... ORPHA:217346
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Claw hand deformity, Finger joint contracture, Shoul... OMIM:252605
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve cusp, Left ventricular hypert... OMIM:619698
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Woolly hair, Palmoplantar keratoderma OMIM:620415
Waardenburg Syndrome Type 3
Hearing impairment, Atelectasis, White hair, Downslanted palpebral fissures, Telecanthus, Thick e... ORPHA:896
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis 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
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Chorioretinal coloboma, Posterior embryotoxon, Ptosis, Corneal opacity, Microphthalmia,... ORPHA:1473
Hatipoglu Immunodeficiency Syndrome
Poor wound healing, Fair hair, Failure to thrive, Premature graying of hair, Recurrent otitis med... OMIM:620331
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Wide nasal bridge, Abnormality of the dentition, Delayed eruption of teeth, Atelectasis, Skin ulc... ORPHA:2314
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Splenomegaly, Pulmonary arterial hyperten... OMIM:230800
Treacher Collins Syndrome 4
Preauricular hair displacement, Lower eyelid coloboma, Cleft palate, Downslanted palpebral fissures OMIM:618939
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Dehydration, Edema ORPHA:103910
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Wide nasal bridge, Alopecia, Prominent nasal bridge, Sparse eyelashes, Absent eyelashes, Absent e... OMIM:137940
Tangier Disease
Distal amyotrophy, Atherosclerosis, Facial diplegia, Splenomegaly, Coronary artery atherosclerosi... OMIM:205400
Noonan Syndrome 5
Sparse eyebrow, Small nail, Fine hair, Downslanted palpebral fissures, Large for gestational age,... OMIM:611553
Hypertrichosis Lanuginosa Congenita
Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation ORPHA:2222
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Flexion contracture OMIM:616733
Barber-Say Syndrome
Delayed eruption of teeth, Failure to thrive, Ectropion, Breast aplasia, Telecanthus, Sparse or a... ORPHA:1231
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... OMIM:615355
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia OMIM:614654
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Severe short stature, Bilateral cryptorchidism, Narrow nose, Intrauterine growth retardation, Mic... OMIM:618336
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Respiratory distress, Recurrent respiratory infections, Chronic otit... OMIM:619466
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Noonan Syndrome 6
Downslanted palpebral fissures, Bilateral ptosis, Low posterior hairline, Epicanthus, Curly hair,... OMIM:613224
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia... ORPHA:79402
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Splenomegaly, ... OMIM:620296
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Hypopigmentation of the skin, Short 1st metacarpal, Short first m... OMIM:601957
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Premature graying of hair, Open bite, Dry skin, Low-set, posteriorly rotated ears,... ORPHA:2617
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Pulmonar... ORPHA:77261
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates, Weight loss, Dyspnea ORPHA:64741
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... ORPHA:363618
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis... ORPHA:60032
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Aortic root aneurysm, Tricuspid regurgitation, Abnormal heart valve morphol... ORPHA:230851
Atelis Syndrome 1
Cataract, Carious teeth, Long philtrum, Downslanted palpebral fissures, Dry skin, Glue ear, High ... 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
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Bilateral ptosis, Right bundle branch block, Exertional dyspnea, Pulm... ORPHA:254361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Macroglo... OMIM:613156
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
High-frequency hearing impairment, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis m... OMIM:300455
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Moynahan Syndrome
Cachexia, Alopecia, Sparse hair, Short stature ORPHA:2574
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRC... OMIM:610978
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail m... ORPHA:248
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Palmoplantar hyperkeratosis, Dystrophic toenail OMIM:619209
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Alkaptonuria
Aortic valve calcification, Thickened Achilles tendon, Aortic aneurysm, Mitral valve calcificatio... OMIM:203500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy OMIM:618228
Bartsocas-Papas Syndrome 1
Small nail, Alopecia totalis, Absent eyelashes, Cicatricial lagophthalmos, Absent eyebrow, Blepha... OMIM:263650
Pseudo-Torch Syndrome 2
Fetal distress, Respiratory insufficiency, Pleural effusion, Petechiae, Bradycardia, Acute respir... OMIM:617397
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Upslanted palpebral... ORPHA:163654
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Central Diabetes Insipidus
Weight loss, Failure to thrive, Dehydration ORPHA:178029
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Aortic root aneurysm, Gener... OMIM:208050
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Low insertion of columella, Short sta... OMIM:619995
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Mcdonough Syndrome
Short palpebral fissure, Dental malocclusion, Open bite, Abnormal palate morphology, Cachexia, Pt... ORPHA:2471
Microphthalmia, Syndromic 16
Sclerocornea, Ankyloblepharon, Anophthalmia, Microphthalmia OMIM:611038
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Keloids, Sparse body hair, Congenital onychodystrophy, Nail dystr... ORPHA:2890
Kerion Celsi
Alopecia ORPHA:499
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Neonatal respiratory distress, Atelectasis, Recurrent otitis media, Chronic ... OMIM:615294
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Failure to thrive, Narrow nasal tip, Decreased body weight, Absent eyel... ORPHA:2985
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Lamellar Ichthyosis
Abnormality of the dentition, Abnormal helix morphology, Abnormality of the nail, Dry skin, Lack ... ORPHA:313
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, H... OMIM:615415
Atrial Fibrillation, Familial, 15
Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde... OMIM:615770
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... OMIM:619167
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Arrhythmia, Purpura, Chronic otitis media... ORPHA:906
Fucosidosis
Low-set ears, Bruising susceptibility, Hearing impairment, Absent/hypoplastic paranasal sinuses, ... OMIM:230000
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Abnormal pulmonary interstitial morphology, Atelectasis, Failu... OMIM:620233
Prolidase Deficiency
Erythema, Carious teeth, Palmoplantar keratoderma, Skin ulcer, Hypoplasia of the zygomatic bone, ... ORPHA:742
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
High anterior hairline, Carious teeth, Dental malocclusion, Retrognathia, Premature ovarian insuf... ORPHA:363444
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Radio-Tartaglia Syndrome
Low-set ears, Hearing impairment, Small nail, Dry skin, Micrognathia, Epicanthus, Narrow palpebra... OMIM:619312
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Failure to thrive, Dehydration OMIM:616069
Intellectual Developmental Disorder, Autosomal Dominant 22
Highly arched eyebrow, Depressed nasal bridge, Intrauterine growth retardation, Micrognathia, Pro... OMIM:612337
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Flat Face-Microstomia-Ear Anomaly Syndrome
Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Small scrotum, Hypoplasia of the zygoma... ORPHA:1968
Palmoplantar Keratoderma And Congenital Alopecia 2
Amniotic constriction ring, Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial er... OMIM:212360
Aredyld Syndrome
Sparse body hair, Abnormal dental enamel morphology, Abnormality of the ureter, Intrauterine grow... ORPHA:1133
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail... ORPHA:1882
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Atelectasis, Bilateral cryptorchidism, Respiratory distress, Decreased fetal moveme... OMIM:300219
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Sepsis In Premature Infants
Diarrhea, Decreased body weight, Hepatomegaly, Jaundice, Tachycardia, Purpura, Pallor, Enterocoli... ORPHA:90051
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Failure to thrive, Downslanted palpebral fissures, Colobom... ORPHA:1617
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thick eyebrow, Microdontia, Thin upper lip vermilion, Upper eyelid col... OMIM:619736
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Ectodermal Dysplasia 13, Hair/Tooth Type
Downslanted palpebral fissures, Thin eyebrow, Sparse eyelashes, Low anterior hairline, Brittle hair OMIM:617392
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Pleural effusion, Parenchymal consolidation, Abnorm... ORPHA:2902
Restrictive Dermopathy
Low-set ears, Natal tooth, Large placenta, Micrognathia, Narrow mouth, Sparse hair, Sparse eyebro... ORPHA:1662
Harrod Syndrome
Dental malocclusion, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Long nos... ORPHA:2115
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Reticular Dysgenesis
Weight loss, Failure to thrive, Dehydration ORPHA:33355
Chromosome 19Q13.11 Deletion Syndrome, Distal
Low-set ears, Carious teeth, Dry skin, Micrognathia, Cryptorchidism, Reduced subcutaneous adipose... OMIM:613026
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dys... OMIM:267450
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Retrognathia, Hypertrichosis, Postnatal growth retardation, Intrauterine growth retardation, Bulb... OMIM:620113
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Retrognathia, Respiratory distress, Intrauterine growth retardation, Micrognathia, ... ORPHA:1832
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Alopecia, Coarse hair, Small nail, Cutaneous finger syndactyly, Hyp... OMIM:613573
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hirsutism ORPHA:85288
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Noonan Syndrome 13
Low-set ears, Recurrent otitis media, Dry skin, Micrognathia, Mitral regurgitation, Cryptorchidis... OMIM:619087
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Failure to thrive, Narrow nose, Intrauterine growth retardation, Cryptorchidism, M... OMIM:617602
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Umbilical hernia, Keratoglobus, Sclerocornea, Fla... OMIM:614170
Pseudo-Torch Syndrome 1
Low-set ears, Cataract, Microretrognathia, Cleft lip, Failure to thrive, Long philtrum, Umbilical... OMIM:251290
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca... ORPHA:3208
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Follicular hyperkeratosis, Brittle hair OMIM:618546
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Respiratory insufficiency, Decreased fetal movement, Recurrent respiratory... OMIM:253300
Mandibulofacial Dysostosis With Alopecia
Alopecia, Dental crowding, Hydroureter, Lower eyelid coloboma, Delayed eruption of primary teeth,... OMIM:616367
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Schilbach-Rott Syndrome
Prominent nose, Micrognathia, Short stature, Long nose, Hypospadias OMIM:164220
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Coarctation... ORPHA:96147
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Hypercalcemia, Infantile, 1
Weight loss, Failure to thrive, Dehydration OMIM:143880
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Inguinal hernia, Fine hair ORPHA:1174
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Ptosis, Microphthalmia, Iris coloboma OMIM:300915
Christianson Syndrome
Gastroesophageal reflux, Cerebellar atrophy, Thick eyebrow, Death in early adulthood, Cachexia, A... ORPHA:85278
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... ORPHA:740
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Skeletal muscle atrophy, Sparse eyelashes, Nail dysplasia, Hypohidrosis... OMIM:615704
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Thin eyebrow,... ORPHA:1433
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... OMIM:310300
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Diastasis recti, Mitral regurgitation, Flexion co... ORPHA:423461
Transient Neonatal Diabetes Mellitus
Failure to thrive, Small for gestational age, Dehydration ORPHA:99886
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Low-set ears, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue, Respi... ORPHA:2759
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Curly hair, Sparse hair, Synophrys OMIM:620075
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... OMIM:619773
Hallermann-Streiff Syndrome
Low-set ears, Natal tooth, Chorioretinal coloboma, Dry skin, Micrognathia, Narrow mouth, Cryptorc... OMIM:234100
Glass Syndrome
Broad nasal tip, Bulbous nose, Long eyelashes, Micrognathia, Narrow nose, Malar flattening, Antev... OMIM:612313
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy ORPHA:46487
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Abnormal cardiovascular system physiology, Pleu... ORPHA:50251
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism, Oligomenorrhea, Infertility OMIM:604931
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Small nail, Trichorrhexis nodosa, Microphthalmia, Concave nail, Nail dystrophy, Spar... OMIM:234050
Sézary Syndrome
Alopecia, Palmoplantar keratoderma, Ectropion, Dry skin, Abnormal pleura morphology, Nail dystrop... ORPHA:3162
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Hypogonadism, Long eyelashes, Cryptorchidism, Micropenis, Sparse hair, Growth delay, Sm... ORPHA:3363
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Situs inversus totalis, Portal hypertension, Patent du... OMIM:267010
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Broad eyebrow, Corneal scarring, Frontal upsweep of hair OMIM:301220
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Hypodontia-Dysplasia Of Nails Syndrome
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... ORPHA:2228
Mirage Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Decreased testicular size, Intrauterine growth ret... OMIM:617053
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Cleft upper lip, Abnormal hair morphology, Telecanthus, Eyelid coloboma, Eth... OMIM:607597
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun... OMIM:167730
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Calcification... ORPHA:3348
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Flexion contracture, Skeletal muscle atrophy, Pulmonic stenosis ORPHA:75496
Oculotrichoanal Syndrome
Anal stenosis, Anteriorly placed anus, Cryptophthalmos, Abnormal hair pattern, Upper eyelid colob... ORPHA:2717
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Neuromuscular dysphagia, Vomiting, Diarrhea, Cardiogen... ORPHA:449285
Noonan Syndrome 4
Sparse eyebrow, High anterior hairline, Downslanted palpebral fissures, Bilateral ptosis, Large f... OMIM:610733
Warburg Micro Syndrome 1
Facial hypertrichosis, Microcornea, Failure to thrive, Hypertrichosis, Ptosis, Developmental cata... OMIM:600118
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Cryptorchidism, Decreased body weight, Everted lower lip vermilion... OMIM:620371
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Hernia, Camptodactyly, Keratoglobus, Corneal ... ORPHA:90354
Braddock-Carey Syndrome 1
Downslanted palpebral fissures, Telecanthus, Enamel hypoplasia, Curly hair, Camptodactyly, Sparse... OMIM:619980
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Multiple eyelid margin cysts, Dry... OMIM:224750
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Pulmonary ar... OMIM:614185
Syndromic X-Linked Intellectual Disability 7
Short stature, Obesity, Sparse body hair ORPHA:85274
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Intrauterine growth retardation, Prominent nasal bridge, Enamel hyp... OMIM:619184
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Underdeveloped nasal alae, Bulbous nose, Prominent nasal bridge, Long nose... ORPHA:352577
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Trichothiodystrophy 1, Photosensitive
Small nail, Dry skin, Intestinal obstruction, Telangiectasia, Brittle hair, Sparse hair, Hyperker... OMIM:601675
Short-Rib Thoracic Dysplasia 12
Low-set ears, Natal tooth, Neonatal death, Epicanthus, Hepatomegaly, Abnormal pinna morphology, R... OMIM:269860
Bartsocas-Papas Syndrome
Popliteal pterygium, Ankyloblepharon, Alopecia totalis, Sparse or absent eyelashes, Narrow mouth,... ORPHA:1234
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... ORPHA:251274
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Dehydration OMIM:251120
Primary Ciliary Dyskinesia
Nasal polyposis, Neonatal respiratory distress, Conductive hearing impairment, Hearing impairment... ORPHA:244
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Epicanthus, Decreased corneal thickness, Red hair, Kerat... OMIM:229200
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pleura morphology, Cutis marmorata, Intestinal obstruction, Pulmonary infiltrates, Weigh... ORPHA:183
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Hearing impairment, Supernumerary nipple, Recurrent ... OMIM:129400
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Alopecia, Ectopic ossification in muscle tissue, Failure... ORPHA:337
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Renal hypoplasia, Downturned corners of mouth, Intestinal malrotation, Hypoplasia of ey... OMIM:619321
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Acrofrontofacionasal Dysostosis
Downslanted palpebral fissures, Eyelid coloboma, Ptosis, Anonychia, Everted lower lip vermilion, ... ORPHA:1784
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Sparse body hair, Intrauterine growth retardation, Truncal obesity, Short stature ORPHA:261483
Dermoodontodysplasia
Nail dysplasia, Trichodysplasia, Thin skin OMIM:125640
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Alopecia, Hematochezia, Xerostomia, Gastrointestinal carcinoma, Hypom... OMIM:175500
Tetrasomy 5P
Wide nasal bridge, Low-set ears, Failure to thrive, Long philtrum, Congestive heart failure, Resp... ORPHA:3309
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Smith-Kingsmore Syndrome
Perisylvian polymicrogyria, Downslanted palpebral fissures, Large for gestational age, Curly hair OMIM:616638
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Abnormality of the dentition, Alopecia, Recurrent pneumonia, Recurrent otitis media, Dry skin, Mi... OMIM:618282
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Patent ductus arteriosus OMIM:243310
Noonan Syndrome 7
Palpebral thickening, Downslanted palpebral fissures, Large for gestational age, Low posterior ha... OMIM:613706
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Upslanted palpebral fissure, Abnor... ORPHA:1794
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Conductive hearing impairment, Atelectasis, Recurrent otitis media, Recurren... OMIM:616726
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Small for gestational age, Hearing impairment, Aspiration pneumoni... OMIM:619057
Fibromuscular Dysplasia, Arterial
Aortic dissection, Intermittent claudication, Stroke, Renovascular hypertension, Arterial fibromu... OMIM:135580
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Catel-Manzke Syndrome
Highly arched eyebrow, Failure to thrive, Oral synechia, Short stature, Glossoptosis, Cleft palate ORPHA:1388
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Fetal Akinesia Deformation Sequence 1
Low-set ears, Micrognathia, Narrow mouth, Cryptorchidism, Blepharophimosis, High palate, High, na... OMIM:208150
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Primary Pulmonary Hypoplasia
Low-set ears, Abnormal pulmonary artery morphology, Neonatal respiratory distress, Failure to thr... ORPHA:2257
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Failure to thrive, Ground-glass... ORPHA:99931
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair, Juvenile cataract ORPHA:1264
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad nasal tip, Disproportionate short-limb short stature, Intrauterine growth retardation, Prom... OMIM:616541
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Eyelid coloboma, Cerebellar hypoplasia, Orofacial cleft... ORPHA:1647
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Perlman Syndrome
High, narrow palate, Wide nasal bridge, Low-set ears, Retrognathia, Abnormal pancreas morphology,... ORPHA:2849
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Ground-glass opacification, Neonatal death, Tachypnea, Paraseptal emphysema... OMIM:610921
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Ridged nail, Vitiligo, Nail dystrophy, Patchy alopecia, ... ORPHA:79153
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Delayed eruption of teeth, Failure to thrive, Small ... ORPHA:73272
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Nail dystro... OMIM:601214
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Sparse eyebrow, Hamartoma of the orbital region, Bilateral microphthalmos, Lacrimal pun... ORPHA:2399
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nasal bridge, Highly arched eyebrow, Failure to thrive, Retrognathia, Depressed nasal tip, M... ORPHA:2995
Classic Mycosis Fungoides
Erythema, Alopecia, Skin ulcer, Dry skin, Splenomegaly, Abnormal eyelid morphology, Hepatomegaly,... ORPHA:2584
Cantu Syndrome
Congenital hypertrophy of left ventricle, Long eyelashes, Curly eyelashes, Large for gestational ... OMIM:239850
Relapsing Polychondritis
Erythema, Alopecia, Cataract, Keratitis, Hepatitis, Atelectasis, Abnormal pattern of respiration,... ORPHA:728
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Mitral stenosis OMIM:617660
Ulerythema Ophryogenesis
Hyperkeratotic papule, Sparse lateral eyebrow, Dry skin, Facial erythema, Follicular hyperkeratosis ORPHA:3406
Darier Disease
Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormali... ORPHA:218
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Bulbous nose, Intrauterine growth retardation, Anteverted nares, Absent nasal ... ORPHA:261211
Cardiofaciocutaneous Syndrome
Dry skin, Cryptorchidism, Excessive wrinkled skin, Low posterior hairline, Epicanthus, Brittle ha... ORPHA:1340
Trimethylaminuria
Tachycardia, Recurrent pneumonia, Hypertension, Splenomegaly OMIM:602079
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Recurrent otitis media, Dry skin, Underdeveloped tragus, Micrognathia, Open mouth, ... OMIM:620654
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Severe short stature, Alopecia, Carious teeth, Generalized hypoplasia of dental enamel, Prominent... OMIM:203550
Netherton Syndrome
Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Emphysema, Dry skin, S... ORPHA:634
Tooth Agenesis, Selective, 8
Sparse eyebrow, Selective tooth agenesis, Dry skin, Microdontia, Sparse hair OMIM:617073
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Olmsted Syndrome 2
Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, Parakeratos... OMIM:619208
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Double Outlet Right Ventricle
Failure to thrive, Intestinal malrotation, Heart murmur, Cyanosis, Abnormality of cartilage of ex... ORPHA:3426
Al Amyloidosis
Macroglossia, Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensatory tac... ORPHA:85443
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Tooth agenesis, Dry skin, Fingernail dysplasia, Microdontia,... ORPHA:1660
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Sparse lateral eyebrow, Astigmatism, Upslanted palpebral fissure, Long palpebral fissur... OMIM:619694
22Q11.2 Deletion Syndrome
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Narrow mouth, Cryptorchidism, Epic... ORPHA:567
Idiopathic Achalasia
Gastroesophageal reflux, Bronchitis, Weight loss, Recurrent aspiration pneumonia, Dysphagia ORPHA:930
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Low-set ears, Micrognathia, Narrow mouth, Cryptorchidism, Parakeratosis, Epicanthus, Blepharophim... ORPHA:83617
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Cerebellar hypoplasia, Spina bifida, Ablepharon, High palate, Cl... OMIM:616038
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... OMIM:203300
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short palpebral fissure, Failure to thrive, Almond-shaped palpebral fissure, Epicanthus, Curly hair OMIM:300986
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Left ventricula... OMIM:301500
Mixed Connective Tissue Disease
Alopecia, Gastroesophageal reflux, Xerostomia, Gastrointestinal hemorrhage, Splenomegaly, Purpura... ORPHA:809
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Short stature, Osteoporosis, Sparse ... OMIM:618625
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave... ORPHA:98909
Porphyria Cutanea Tarda
Hypertrichosis, Corneal scarring, Hirsutism, Scarring, Ectropion ORPHA:101330
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Retrognathia, Downslanted palpebral fissures, Micrognathia, Cryptorchidism, Neonata... OMIM:611890
Hemorrhagic Fever-Renal Syndrome
Diarrhea, Decreased body weight, Pulmonary edema, Tachycardia, Shock, Palpitations, Pleural effus... ORPHA:340
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anteriorly placed anus, Cryptophthalmos, Abnormality of the hairline, Eyelid colob... OMIM:248450
Ablepharon Macrostomia Syndrome
Growth delay, Fine hair, Breast hypoplasia, Cryptophthalmos, Microdontia, Absent eyelashes, Abnor... ORPHA:920
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Abnormal eyelid morph... ORPHA:2221
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Type II lissencephaly, Microphthalmia, Low anterior hairline, Coloboma, Corneal opacity... OMIM:613153
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Heyn-Sproul-Jackson Syndrome
Severe short stature, Intrauterine growth retardation, Sparse hair, Decreased body weight OMIM:618724
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Small scrotum, Microphallus, Prominent nose, Cryptorchidism, Micropenis, Long nose, Mandibular pr... OMIM:300486
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Wide nasal bridge, Alopecia, Failure to thrive, Intrauterine growth retardation, Anteverted nares... ORPHA:50812
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Bilateral ptosis, Respiratory distress, Respiratory insufficiency, Failure t... ORPHA:254875
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Ga... OMIM:613177
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Polymicrogyria, Downslanted palpebral fissures, Large for gestational age, Curly hair ORPHA:457485
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Syncope, Dyspnea, Jaundice ORPHA:1959
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Dry skin, Decreased body weight, Recurrent lower respiratory tract infections, Dys... OMIM:619229
Frontofacionasal Dysplasia
Telecanthus, Absent inner eyelashes, Encephalocele, Upper eyelid coloboma, Ptosis, Blepharophimos... ORPHA:1791
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Low-set ears, Hearing impairment, Narrow mouth, Mitral regurgitation, Cryptorchidism, Fragile ski... OMIM:601776
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Genera... ORPHA:1933
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal... OMIM:608470
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit... OMIM:610202
Hajdu-Cheney Syndrome
Aortic valve stenosis, Low-set ears, Periodontitis, Hearing impairment, Open bite, Dry skin, Micr... ORPHA:955
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Nodular regenerative hyperplasia of liver, Portal hypertension, Petechiae, Splenomegal... OMIM:619463
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation OMIM:601706
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Cerebellar atrophy, Gingival overgrowth, Thick vermilion border, Neonata... OMIM:618186
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Aredyld
Generalized hypotrichosis OMIM:207780
Tularemia
Pneumonia, Conjunctivitis, Respiratory distress, Pleural effusion, Otitis media, Oral ulcer, Pulm... ORPHA:3392
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Iris coloboma, Buphthalmos OMIM:212550
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Pulmonary infiltrates, Tachy... ORPHA:178320
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Dental crowding, Hea... OMIM:614669
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Megalocornea, Polycystic ovaries, Pulmonary edema, Tachypnea, Hep... ORPHA:137675
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Skin ulcer, Gastrointestinal infarctions, Abnormality of... ORPHA:91138
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Horner syndrome, Blepharophimosi... OMIM:141300
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Conical tooth, Absent nipple, Xerostomia, Sparse lateral eyebrow, Periorbital wrinkles, Sparse bo... OMIM:614941
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Flynn-Aird Syndrome
Alopecia, Increased bone density with cystic changes, Alopecia of scalp, Osteoporosis, Increased ... OMIM:136300
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Highly arched eyebrow, Short palpebral fissure, Telecanthus, Thick eyebrow, Upslanted palpebral f... OMIM:617360
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Low-set ears, Short palpebral fissure, Retrognathia, Long philtrum, Bilatera... ORPHA:485405
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Gastroesophageal reflux, Atelectasis, Cardiomyopathy, Abnormality of the temporoman... ORPHA:258
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Failure to thrive, Underdeveloped nasal alae, Postnatal growth retardatio... OMIM:300912
Spastic Paraplegia 51, Autosomal Recessive
Wide nasal bridge, Bulbous nose, Short stature, Long nose, Overweight OMIM:613744
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hearing impairment, Orthopnea, Hepatomegaly, Dysphagia, Bowel incontinence, Vasculitis, Difficult... ORPHA:365
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Narrow nose, Narrow nasal bridge, Micrognathia, Prominent nasal bridge... OMIM:309520
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair, Hyperhidrosis OMIM:613576
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat... OMIM:609040
Pierre Robin Sequence With Facial And Digital Anomalies
Hyperconvex nail, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Carious teeth, Long philtrum, Downslanted palpebral fissures, Large earlobe, Dry skin, Long eyela... OMIM:620191
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Abnormality of ... ORPHA:298
Matthew-Wood Syndrome
Low-set ears, Annular pancreas, Failure to thrive, Duodenal stenosis, Intrauterine growth retarda... ORPHA:2470
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Mitral valve prolapse, Low posterior hairline, Sparse facial hair, Short stature, Absent... ORPHA:2183
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Meckel diverticulum, Abnormal EKG, Abnorma... ORPHA:1666
Ataxia-Photosensitivity-Short Stature Syndrome
Abnormality of the dentition, Dry skin, High palate, Cutaneous photosensitivity, Urticaria ORPHA:1184
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Trichothiodystrophy
Carious teeth, Dry skin, Cryptorchidism, Epicanthus, Brittle hair, Bilateral sensorineural hearin... ORPHA:33364
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Self-Improving Dystrophic Epidermolysis Bullosa
Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region ORPHA:79411
Stapes Ankylosis With Broad Thumbs And Toes
Long nose, Low hanging columella, Underdeveloped nasal alae OMIM:184460
Pierpont Syndrome
Abnormal cortical gyration, High anterior hairline, Microcornea, Telecanthus, Narrow palpebral fi... ORPHA:487825
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Farber Disease
Hepatic fibrosis, Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis, R... ORPHA:333
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Alopecia, Eyelid coloboma, Agenesis of corpus callosum, Cer... OMIM:613001
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Flexion contracture... ORPHA:2850
Griscelli Syndrome Type 2
Iris hypopigmentation, Premature graying of hair, Splenomegaly, Petechiae, Pulmonary infiltrates,... ORPHA:79477
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Renal Hypodysplasia/Aplasia 4
Anhydramnios, Respiratory failure, Pulmonary hypoplasia OMIM:619887
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Pulmonary arterial hypertension, Telangiectasia of the skin, Myoc... ORPHA:81
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ... ORPHA:254346
Riddle Syndrome
Dry skin, Pulmonary fibrosis OMIM:611943
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Diarrhea, Bruising suscep... ORPHA:99828
Marsili Syndrome
Corneal scarring OMIM:147430
Sneddon Syndrome
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension OMIM:182410
Juvenile Dermatomyositis
Vasculitis, Alopecia, Gastrointestinal hemorrhage, Erythema, Skin ulcer, Cardiomyopathy, Bundle b... ORPHA:93672
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Hypohidrosis, Abnormal eyelash morphology, Abnormality of the n... OMIM:614237
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Burn-Mckeown Syndrome
Bifid uvula, Short palpebral fissure, Unilateral renal agenesis, Renal hypoplasia, Cleft upper li... OMIM:608572
Dermatopathia Pigmentosa Reticularis
Palmoplantar hyperkeratosis, Alopecia of scalp, Nail dystrophy, Reticular hyperpigmentation OMIM:125595
Congenital Fibrinogen Deficiency
Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage ORPHA:335
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ... ORPHA:169186
Kaposiform Lymphangiomatosis
Epistaxis, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Pancreatic cys... ORPHA:464329
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Truncus arteriosus, Ventricular septal de... OMIM:609029
Tietz Albinism-Deafness Syndrome
Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides OMIM:103500
Lujo Hemorrhagic Fever
Hypotension, Vomiting, Diarrhea, Subconjunctival hemorrhage, Atelectasis, Respiratory distress, S... ORPHA:319213
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Mitral regu... OMIM:123700
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ... ORPHA:1600
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Dehydration OMIM:602722
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas... ORPHA:1818
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Chronic sinusiti... ORPHA:922
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, ... OMIM:616166
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Telecanthus, Long palpebral fissure, Ptosis, Coloboma, Microphthalmia, Pac... OMIM:614583
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Broad eye... ORPHA:457351
Sjögren-Larsson Syndrome
Erythema, Abnormal dental enamel morphology, Dry skin, Hyperkeratosis, Corneal erosion, Urticaria ORPHA:816
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Short stature, Long nose ORPHA:85329
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Dysphagia, Respiratory failure, Respiratory failure requiring assi... ORPHA:90117
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Long nose, Thick eyebrow, Mandibular prognathia, Decreased body weight OMIM:300243
Deafness, X-Linked 7
Ptosis, Telecanthus, Thick eyebrow, Unilateral microphthalmos OMIM:301018
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Chondrocalcinosis, Skeletal muscle atrophy, Su... ORPHA:79474
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Robinow-Sorauf Syndrome
Long nose, Malar flattening, Narrow nose OMIM:180750
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Zygomycosis
Diarrhea, Pulmonary infiltrates, Ileitis, Colitis, Acute infectious pneumonia, Air crescent sign,... ORPHA:73263
Primary Myelofibrosis
Abnormal bleeding, Hepatosplenomegaly, Portal hypertension, Petechiae, Pallor, Ecchymosis, Spleno... ORPHA:824
Porphyria, Congenital Erythropoietic
Alopecia, Joint contracture of the hand, Atypical scarring of skin, Hypertrichosis, Corneal scarr... OMIM:263700
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Skeletal muscle atrophy, Macroglossia, Flexion con... ORPHA:261290
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolapse, Mitral stenosis, Ventri... OMIM:616564
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Gastroesophageal reflux, Failure to thrive, Respiratory insufficiency, Res... OMIM:614399
Bachmann-Bupp Syndrome
Cupped ear, Small nail, Downslanted palpebral fissures, Dry skin, Large for gestational age, Cryp... OMIM:619075
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Cryptorchidism, E... ORPHA:534
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys ORPHA:1021
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:289504
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Coproporphyria, Hereditary
Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Splenomegaly, Cutaneous photosensitivity, I... OMIM:121300
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Hearing impairme... ORPHA:33226
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypotension, Diarrhea, Vomiting, Hepatitis, Respiratory distress, Shock, Respiratory t... ORPHA:36234
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Dentinogenesis imperfecta, Microcornea, Carious teeth, Bruising susceptibility, Ate... ORPHA:536467
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Gastrointestinal hemorrhage, Oral leukoplakia, Fine hair, Premature graying of hair, He... OMIM:613990
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Downslanted palpebral fissures, Thick eyebrow, Long palpebral fissure, Corneal opacity... OMIM:602562
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresi... ORPHA:99050
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... OMIM:182250
Neu-Laxova Syndrome 1
Hydranencephaly, Cleft upper lip, Thick lower lip vermilion, Pterygium, Intrauterine growth retar... OMIM:256520
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Delayed eruption of teeth, Abnormal fingernail morphology, Fingernai... ORPHA:2325
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Hepatosplenomegaly, Calcification of the aort... ORPHA:2072
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Downslanted palpebral fissures, Astigmatism, Upslanted... OMIM:152950
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Intestinal malrotation, Cryptophthalmos, Ureteral ag... OMIM:617666
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Failure to thrive, Respiratory distress, Cyanosis, ... OMIM:263000
Dermatomyositis
Erythema, Dry skin, Lung adenocarcinoma, Arrhythmia, Weight loss, Dysphagia, Cutaneous photosensi... ORPHA:221
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Hepatomegaly, Cardiac arrest... ORPHA:77260
Fraser Syndrome 1
Small nail, Extension of hair growth on temples to lateral eyebrow, Encephalocele, Absent eyelash... OMIM:219000
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Gastroesophageal reflux, Congestive heart failur... ORPHA:85450
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla, Broad eyebrow, Small for gestational age, Synophrys OMIM:618302
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Chorioretinal coloboma, Dry skin, Open mouth, Epicanthus, Everted lower lip vermilion, Uplifted e... OMIM:280000
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Mi... ORPHA:746
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Filippi Syndrome
Hypertrichosis, Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal... OMIM:272440
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Subvalvular aortic stenosis OMIM:250951
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Tachycardia, Hypoxemia, Pulmonary opacity ORPHA:330012
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Long nose, Macroorchidism ORPHA:85327
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... OMIM:269400
Granulomatosis With Polyangiitis
Intestinal obstruction, Pulmonary infiltrates, Sensorineural hearing impairment, Arrhythmia, Weig... ORPHA:900
Pierpont Syndrome
High anterior hairline, Microcornea, Failure to thrive, Unilateral narrow palpebral fissure, Tele... OMIM:602342
Sweeney-Cox Syndrome
Gastroesophageal reflux, Velopharyngeal insufficiency, Small nail, Narrow mouth, Median cleft pal... OMIM:617746
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Acrodermatitis Enteropathica
Erythema, Dry skin, Weight loss, Abnormality of the nail, Corneal erosion, Alopecia, Ridged finge... ORPHA:37
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Contracture of the distal interphalangeal joint of... OMIM:607015
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Failure to thrive in infancy, Tachypnea, Acute infect... ORPHA:264675
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Decreased testicular size, Moderate intrauterine growth retardation, Oligo... ORPHA:293967
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Atrioventricular block, ... ORPHA:1329
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Depressed nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Cryptorchidism, Low anterio... OMIM:620224
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
X-Linked Intellectual Disability, Cabezas Type
Downslanted palpebral fissures, Open bite, Thick lower lip vermilion, Obesity, Short philtrum, Ep... ORPHA:85293
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Microphthalmia, Corneal opacity, Antecu... OMIM:619339
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Ground-glass opacification, Tachypnea, Respiratory insufficiency,... OMIM:610913
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Supernumerary nipple, Eyelid coloboma, Ectropion of lower eyelids... ORPHA:246
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormal biliary tract morphology, Abnormal... ORPHA:3032
Neuralgic Amyotrophy
Bifid uvula, Short palpebral fissure, Respiratory insufficiency, Narrow mouth, Redundant neck ski... ORPHA:2901
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Camptodactyly, Atrial septal defect ORPHA:459061
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Premature graying of hair, Abnormal hair morphology, Na... ORPHA:1979
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Decreased fetal movement, Umbilical hernia OMIM:254120
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Bruising susceptibility, Pallor, Splenomegaly, Intracranial hemorrhage, Sen... ORPHA:3226
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg... ORPHA:576
Omenn Syndrome
Pneumonia, Alopecia, Failure to thrive, Desquamation of skin soon after birth, Dry skin, Splenome... ORPHA:39041
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Congestive heart failure, Respiratory distress, Tricuspid regurgitation,... ORPHA:2414
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Petechiae, Splenomegaly, Multiple gastric polyps, Hepatomeg... OMIM:225750
Graft Versus Host Disease
Pneumonia, Vomiting, Diarrhea, Failure to thrive, Hepatosplenomegaly, Chronic hepatitis, Recurren... ORPHA:39812
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Hypertrichosis, Malar flattening, Long nose, Short nose OMIM:618590
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe short stature, Rhizomelia, Alopecia, Epiphyseal stippling, Calcific stippling of infantile... OMIM:215100
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Tufted Angioma
Hemangioma of the lip, Purpura, Petechiae, Hypertrichosis ORPHA:1063
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Low-set ears, Long philtrum, Respiratory distress, Facial hirsutism, Hypertrop... OMIM:619383
Short Syndrome
Alopecia, Hypoplasia of the iris, Megalocornea, Telecanthus, Abnormal pupil morphology, Posterior... ORPHA:3163
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Acrofacial Dysostosis, Cincinnati Type
Median pseudocleft lip, Decreased body weight, Epicanthus, Aqueductal stenosis, High palate, Dysp... OMIM:616462
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Hepatic steato... OMIM:617872
Ring Chromosome 10 Syndrome
Long philtrum, Downslanted palpebral fissures, Intrauterine growth retardation, Hypocalcemia, Aga... ORPHA:1438
Lipodystrophy, Familial Partial, Type 7
Low-set ears, Diarrhea, Facial wrinkling, Dry skin, Cutis marmorata, Narrow mouth, Reduced subcut... OMIM:606721
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Familial Osteodysplasia, Anderson Type
Depressed nasal ridge, Carious teeth, Failure of eruption of permanent teeth, Bulbous nose, Promi... ORPHA:2769
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Mic... ORPHA:1806
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Vomiting, Dilated cardiomyopathy, Anteriorly placed anus, Resp... ORPHA:26793
Alagille Syndrome
Failure to thrive, Intrauterine growth retardation, Micrognathia, Cryptorchidism, Delayed puberty... ORPHA:52
Helsmoortel-Van Der Aa Syndrome
Carious teeth, Lateral ventricle dilatation, Ankyloglossia, Epicanthus, Everted lower lip vermili... OMIM:615873
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc... ORPHA:2269
Treacher-Collins Syndrome
Abnormal hair morphology, Open bite, Narrow mouth, Encephalocele, Absent eyelashes, High palate, ... ORPHA:861
Arterial Tortuosity Syndrome
Keratoconus, Cardiorespiratory arrest, Esophagitis, Blepharophimosis, Short nose, Macrotia, Short... ORPHA:3342
Apparent Mineralocorticoid Excess
Stroke, Left ventricular hypertrophy, Hypertension ORPHA:320
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Wide nasal bridge, Low-set ears, Aplasia/Hypoplasia of the earlobes, Retrognathia, Fine hair, Too... ORPHA:2637
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest OMIM:617713
Postaxial Acrofacial Dysostosis
Conical tooth, Cleft upper lip, Downslanted palpebral fissures, Supernumerary nipple, Postnatal g... OMIM:263750
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Restrictive cardiomyopathy, Patent foramen ovale, Camptodactyly, Osteolysis involving b... ORPHA:88630
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Sparse body hair, Epiphyseal stippling, Short stature, Spina bifida occulta... ORPHA:177
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Wide nose ORPHA:2184
Koolen-De Vries Syndrome
Dry skin, Cryptorchidism, Epicanthus, Everted lower lip vermilion, Blepharophimosis, High, narrow... ORPHA:96169
Oculoauriculofrontonasal Syndrome
Cleft lip, Narrow mouth, Encephalocele, Upper eyelid coloboma, Broad philtrum, Limbal dermoid, Cl... ORPHA:398156
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Tarp Syndrome
Hearing impairment, Micrognathia, Cryptorchidism, Abnormal antihelix morphology, Pierre-Robin seq... ORPHA:2886
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Chronic otitis media, Emphysema, Failure to thrive in infancy, Abnormality... ORPHA:1572
Temtamy Syndrome
Aortic regurgitation, Aortic aneurysm OMIM:218340
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair, Abnormal dental enamel morphology, Epicanthus, Ptosis, Blepharophimosis ORPHA:3236
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Dehydration OMIM:618958
Scalp-Ear-Nipple Syndrome
Low-set ears, Dry skin, Underdeveloped tragus, Epicanthus, Blepharophimosis, Narrow palpebral fis... OMIM:181270
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Growth delay, Splenomegaly ORPHA:100025
X-Linked Centronuclear Myopathy
Pneumonia, Low APGAR score, Respiratory distress, Respiratory failure requiring assisted ventilat... ORPHA:596
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Cerebral calcification, Facial palsy, Coarctation of aorta ORPHA:2780
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept... OMIM:601808
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Purpura OMIM:613496
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Cirrhosis, Gastric varix, Panacinar emphysema, Dyspnea, Bronchi... OMIM:613490
Jacobsen Syndrome
Multicystic kidney dysplasia, Agenesis of corpus callosum, Epicanthus, Duodenal atresia, Annular ... ORPHA:2308
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Hepatomegaly, Lef... ORPHA:308552
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Downslanted palpebral fissures, Failure to thrive in infancy, Intrauterine growth retardation, Op... OMIM:616801
Nager Syndrome
Unilateral renal agenesis, Non-midline cleft of the upper lip, Downslanted palpebral fissures, Lo... ORPHA:245
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Progeroid Syndrome, Petty Type
Umbilical hernia, Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Redu... ORPHA:2963
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Fraser Syndrome
Encephalocele, Anal atresia, High palate, Malformed lacrimal duct, Hypospadias, Lacrimal duct apl... ORPHA:2052
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Sensorineural hearing impairment, Respiratory in... ORPHA:2590
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Hepatomegaly, Mitral regurgitation, Intimal thickening in the coronary art... OMIM:253010
Intestinal Dysmotility Syndrome
Polyhydramnios, Weight loss, Failure to thrive OMIM:620045
Dubowitz Syndrome
Hearing impairment, Dry skin, Cutis marmorata, Micrognathia, Cryptorchidism, Abnormal antihelix m... ORPHA:235
Alopecia Totalis
Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails ORPHA:700
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Abnormal bleeding, Retrognathia, Failure to thrive, Cholesta... OMIM:614576
Esophageal Atresia
Hearing impairment, Esophagitis, Abnormal gastrointestinal tract morphology, Episodic respiratory... ORPHA:1199
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Myocardial infarction, Cachexia, Acute infectious pneumon... ORPHA:60033
Chops Syndrome
Cataract, Coarse hair, Long eyelashes, Thick eyebrow, Obesity, Thick hair, Curly hair, Synophrys OMIM:616368
Non-Acquired Isolated Growth Hormone Deficiency
Decreased muscle mass, Delayed puberty, Abdominal obesity, Short stature, Sparse hair, Growth delay ORPHA:631
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Downturned corners of mouth, Dry skin, Nail dystrophy, Malar flattening, Hir... OMIM:300860
X-Linked Agammaglobulinemia
Alopecia, Recurrent pneumonia, Skin ulcer, Hepatitis, Failure to thrive, Glossoptosis, Sensorineu... ORPHA:47
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Corneal opacity ORPHA:1980
Bardet-Biedl Syndrome 16
Bronchiolitis, Hearing impairment, Respiratory distress, Recurrent otitis media, Obesity, Recurre... OMIM:615993
Ebstein Anomaly
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... OMIM:224700
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Dehydration OMIM:610600
Koolen-De Vries Syndrome
Dry skin, Open mouth, Cryptorchidism, Epicanthus, Everted lower lip vermilion, Blepharophimosis, ... OMIM:610443
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Arthrogryposis, Distal, With Impaired Proprioception And Touch
Short stature, Long nose, Wide nasal bridge OMIM:617146
Ablepharon-Macrostomia Syndrome
Anteriorly placed anus, Hypoplastic fingernail, Cryptophthalmos, Hypoplasia of eyelid, Absent eye... OMIM:200110
Johanson-Blizzard Syndrome
Alopecia, Delayed eruption of teeth, Failure to thrive, Abnormal vagina morphology, Underdevelope... ORPHA:2315
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr... OMIM:613507
Silver-Russell Syndrome Due To A Point Mutation
Low-set ears, Hypoplastic fingernail, Small placenta, Intrauterine growth retardation, Micrognath... ORPHA:397590
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage OMIM:603585
Toxic Epidermal Necrolysis
Erythema, Gastrointestinal hemorrhage, Skin ulcer, Respiratory distress, Acantholysis, Abnormal p... ORPHA:537
Congenital Myopathy 24
First degree atrioventricular block, Cardiomyopathy OMIM:617336
Periventricular Nodular Heterotopia 1
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Squalene Synthase Deficiency
Low-set ears, Retrognathia, Bilateral cryptorchidism, Failure to thrive in infancy, Dry skin, Int... OMIM:618156
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Pulmo... OMIM:619745
Meckel Syndrome 12
Wide nasal bridge, Intrauterine growth retardation, Micrognathia, Anteverted nares, Vaginal atres... OMIM:616258
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Chand Syndrome
Ankyloblepharon, Atelectasis, Dry skin, Agenesis of permanent teeth, Nail dysplasia, Abnormal ora... ORPHA:1401
Coach Syndrome 2
Hepatic fibrosis, Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concent... OMIM:619111
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,... OMIM:277600
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Microphthalmia, Syndromic 8
Microcornea, Short palpebral fissure, Blepharophimosis, Microphthalmia OMIM:601349
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Arterial dissection, Aortic dissection, Camptodactyly of finger, Abnormal h... ORPHA:284984
Hennekam-Beemer Syndrome
Wide nasal bridge, Failure to thrive, Micrognathia, Short stature, Long nose, Wide nose ORPHA:2135
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Brittl... ORPHA:1883
Jung Syndrome
Wide nasal bridge, Dry skin, Telecanthus, Low posterior hairline, Recurrent respiratory infections ORPHA:2321
Frontonasal Dysplasia 3
Upper eyelid coloboma, Absent eyebrow, Cleft palate, Sparse eyelashes OMIM:613456
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Orthokeratosis, Cholestasis, Dry skin, Portal hyperte... OMIM:607626
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Umbilical hernia, Respiratory distress, Dry skin, Goiter, Large for gestational age, Constipation... ORPHA:226313
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma OMIM:611638
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Dehydration OMIM:203400
Gaucher Disease
Aortic valve calcification, Cherry red spot of the macula, Abnormal pericardium morphology, Abnor... ORPHA:355
Congenital Factor Xiii Deficiency
Gingival bleeding, Inflammation of the large intestine, Poor wound healing, Prolonged bleeding af... ORPHA:331
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Sandestig-Stefanova Syndrome
Wide nasal bridge, Highly arched eyebrow, Low-set ears, Small for gestational age, Retrognathia, ... OMIM:618804
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Downslanted palpebral fissures, Th... ORPHA:2563
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Multiple joint contractures, Truncus arte... ORPHA:96170
Perching Syndrome
Respiratory distress, High palate, Dysphagia, Cyanosis OMIM:617055
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Facial hypertrichosis OMIM:176100
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Hearing impairment, Dry skin, Cryptorchidism, Chronic constipation, Low po... ORPHA:163956
Hunter-Macdonald Syndrome
Aortic regurgitation, Joint contracture of the hand, Mitral regurgitation, Mitral valve prolapse,... OMIM:611962
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Frontal balding, Bulbous nose, Decreased body weight, Short stature, M... ORPHA:93945
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Generalized hypopigmentation of hair, Hypoplasia of the maxilla, Xe... ORPHA:238468
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Short palpebral fissure, Growth delay, Failure to thrive,... ORPHA:3339
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Parakeratosis, Woolly hair, Hyperkeratosis... OMIM:615821
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Respiratory distress, Shock, Pleural effusion, Parenchymal consolidation,... ORPHA:36238
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Coarse hair, Low anterior hairline, Generalized hirsutism, Oligodon... ORPHA:2095
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Groun... ORPHA:2032
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:100300
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric... OMIM:115195
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
Wide nasal bridge, Sparse eyebrow, Onychogryposis of toenails, Dry skin, Open mouth, Long palpebr... OMIM:600906
Pneumocystosis
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Pleural ef... ORPHA:723
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Ogden Syndrome
Low-set ears, Palpebral thickening, Diarrhea, Everted upper lip vermilion, Facial wrinkling, Tors... OMIM:300855
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Downslanted palpebral fissures, Th... OMIM:157980
Polyarteritis Nodosa
Erythema, Skin ulcer, Cardiomyopathy, Cutis marmorata, Hypertension, Abnormality of the gastroint... ORPHA:767
Avian Influenza
Pneumonia, Diarrhea, Vomiting, Hepatitis, Congestive heart failure, Respiratory distress, Ground-... ORPHA:454836
Cranioectodermal Dysplasia 3
Peripheral pulmonary artery stenosis, Short nail, Fine hair, Widely spaced teeth, Dry skin, Telec... OMIM:614099
Sea-Blue Histiocytosis
Abnormal bleeding, Splenomegaly, Petechiae, Pulmonary infiltrates, Hepatomegaly, Blepharitis ORPHA:158029
Immune Dysregulation, Autoimmunity, And Autoinflammation
Gingival bleeding, Epistaxis, Petechiae, Ecchymosis OMIM:620514
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ... ORPHA:280779
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Jacobsen Syndrome
Annular pancreas, Failure to thrive, Telecanthus, Intrauterine growth retardation, Eyelid colobom... OMIM:147791
Oculopharyngodistal Myopathy
High, narrow palate, Difficulty in tongue movements, Progressive sensorineural hearing impairment... ORPHA:98897
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia OMIM:616276
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Hereditary Mucoepithelial Dysplasia
Cataract, Alopecia, Fine hair, Sparse hair, Corneal dystrophy ORPHA:1839
Rothmund-Thomson Syndrome Type 2
Carious teeth, Delayed eruption of teeth, Abnormal dental enamel morphology, Alopecia totalis, Sp... ORPHA:221016
Congenital Disorder Of Glycosylation, Type Iq
Low-set ears, Cataract, Failure to thrive, Hypertrichosis, Dry skin, Cutis laxa, Coloboma, Hyperk... OMIM:612379
Meningococcal Meningitis
Hypotension, Neonatal respiratory distress, Hearing impairment, Shock, Petechiae, Purpura, Projec... ORPHA:33475
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Odontoonychodermal Dysplasia
Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Sparse eyeb... OMIM:257980
Immunodeficiency 54
Failure to thrive, Respiratory insufficiency, Intrauterine growth retardation, Splenomegaly, Adre... OMIM:609981
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Cerebral calcification, Abnormal aortic morpholog... ORPHA:2396
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Oculocerebrofacial Syndrome, Kaufman Type
Micrognathia, Epicanthus, Absent eyebrow, Blepharophimosis, High, narrow palate, Microcornea, Sho... ORPHA:2707
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Dry skin, Orofacial cleft, Chorioretinal coloboma OMIM:218650
Orofaciodigital Syndrome Type 1
Hearing impairment, Open bite, Dry skin, Micrognathia, Epicanthus, Brittle hair, High palate, Spa... ORPHA:2750
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Low-set ears, Poor wound healing, Micrognathia, Epicanthus, Fragile skin, Ever... OMIM:225410
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Supravalvular ao... OMIM:219100
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Dermoids Of Cornea
Corneal opacity OMIM:304730
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Malignant Atrophic Papulosis
Cataract, Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarction... ORPHA:679
Beta-Mercaptolactate Cysteine Disulfiduria
Hypoplasia of the ear cartilage, Umbilical hernia, Low-set, posteriorly rotated ears, Dry skin, D... ORPHA:1035
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab... ORPHA:1028
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Dry skin, Increased body weight, Constipation, Increased body mass ind... OMIM:614450
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal... ORPHA:1120
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Severely reduced left ventricular ejection fraction, Cardiomyopathy, Hepato... OMIM:252600
Trichohepatoneurodevelopmental Syndrome
Thoracic hypertrichosis, Coarse hair, Long eyelashes, Astigmatism, Almond-shaped palpebral fissur... OMIM:618268
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Hypoplasia of the zygomatic bone, Fine hair, Supernumerary nipple, Retrognathia, Dr... ORPHA:1812
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Failure to thrive, Downslanted palpebral fissures, Long eyelashes, Large for g... OMIM:607721
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Failure to th... OMIM:617506
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Hyperkeratosis, Dry skin ORPHA:454
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Blepharitis, Palmoplantar keratoderma, Keratitis, Dry skin, Nail dystrophy, Spars... OMIM:308800
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy, Cataract ORPHA:1366
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary infiltrates, Pulmonary edema, Pancreatitis, ... ORPHA:70578
Hypotrichosis Simplex Of The Scalp
Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Slow-growing scal... ORPHA:90368
Shigellosis
Pneumonia, Hypovolemic shock, Vomiting, Conjunctivitis, Ulcerative colitis, Acute colitis, Choles... ORPHA:810
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair ORPHA:79133
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Bohring-Opitz Syndrome
Low-set ears, Supernumerary nipple, Micrognathia, Narrow mouth, Bilateral cleft palate, Epicanthu... OMIM:605039
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Bruising susceptibility, Petechiae, Splenomegaly, Ecchymosis, Sensorin... ORPHA:540
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic... OMIM:610256
Fanconi Anemia, Complementation Group S
Failure to thrive, Long eyelashes, Upslanted palpebral fissure, Low anterior hairline, Epicanthus... OMIM:617883
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Downslanted palpebral fissures, Eyelid coloboma, Ptosis, Short stature, Spina bi... OMIM:268850
Trichothiodystrophy 9, Nonphotosensitive
Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy OMIM:619692
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Osteopenia, Abnormality of carpal bone ossification, Failure to thrive, Slender build, Intrauteri... OMIM:608154
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia, Cerebellar atrophy, Dysphagia OMIM:618093
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Abnormal cornea morphology, Conductive hearing impairment, Atelectasi... OMIM:244400
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Atrichia, Abnormal heart morphology, Nail dystrophy, Short stature, Growth delay, Conge... ORPHA:1867
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Foveal Hypoplasia 2
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia OMIM:609218
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Abnormal umbilical stump bleeding, Prolon... OMIM:613235
Ethanolaminosis
Cardiomegaly OMIM:227150
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, High palate, Follicular hyperkeratosis, Respiratory insufficiency due to muscle weakness OMIM:617066
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Scaling skin,... ORPHA:530838
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Trichiasis, Peters anomaly, Corneal scarring, Epiblepharon, Joint contract... OMIM:618460
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Death in infancy, Hepatomegaly, Ja... OMIM:614876
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Cold urticaria, Viral hepatitis, Congestive heart failur... ORPHA:91139
Macs Syndrome
Micrognathia, Cryptorchidism, Irregular dentition, Decreased body weight, Epicanthus, High palate... OMIM:613075
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Long philtrum, Cryptophthalmos, Long eyelashes, Epicanthus, Hypospadias OMIM:615877
Familial Renal Glucosuria
Dehydration ORPHA:69076
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Vomiting, Diarrhea, Reduced left ventricular ejection fraction, Pleural effusion, Pu... ORPHA:542323
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp ORPHA:346
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Low-set ears, Cataract, High anterior hairline, Neonatal respiratory distress, Horizontal eyebrow... OMIM:618797
Microphthalmia/Coloboma 9
Microcornea, Microphthalmia, Ptosis, Ocular anterior segment dysgenesis, Narrow palpebral fissure... OMIM:615145
Lethal Acantholytic Erosive Disorder
Absent fingernail, Hypovolemic shock, Abnormal helix morphology, Natal tooth, Congenital alopecia... ORPHA:158687
Congenital Heart Defects And Ectodermal Dysplasia
High anterior hairline, Widely spaced teeth, Dry skin, Premature loss of primary teeth, Microdont... OMIM:617364
Bone Marrow Failure Syndrome 4
Low-set ears, Dry skin, Recurrent respiratory infections OMIM:618116
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Gastroesophageal reflux, Downturned corners of mouth, Downslanted palpebra... OMIM:300590
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Degcags Syndrome
Low-set ears, Hearing impairment, Oral-pharyngeal dysphagia, Premature graying of hair, Cholestas... OMIM:619488
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Downslanted palpebral fissures, Curly hair ORPHA:85184
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Anauxetic Dysplasia 1
Aortic valve stenosis, Macroglossia, Elbow flexion contracture, Hip contracture OMIM:607095
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia, Neonatal respiratory distress, Decreased fetal movement, Polyhydramnios, Dy... OMIM:616867
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Agnathia-Otocephaly Complex
Low-set ears, Microglossia, Conductive hearing impairment, Downslanted palpebral fissures, Respir... OMIM:202650
Congenital Tracheomalacia
Gastroesophageal reflux, Respiratory insufficiency, Partial anomalous pulmonary venous return, Br... ORPHA:95430
Cardiocranial Syndrome, Pfeiffer Type
Abnormal hair whorl, Small hypothenar eminence, Plantar flexion contracture, Contracture of the p... ORPHA:2872
Neonatal Marfan Syndrome
High, narrow palate, Wide nasal bridge, Low-set ears, Crumpled ear, Ectopia lentis, Neonatal resp... ORPHA:284979
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Decreased liver function, Long ph... OMIM:608104
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Periodontitis, Cryptorchidism, Pulmonary bulla, Fragile skin, Pulmonary bleb, Absent... OMIM:130050
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276575
Syndromic Diarrhea
Aortic regurgitation, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy ... ORPHA:84064
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Dehydration OMIM:264350
Barber-Say Syndrome
Low-set ears, Velopharyngeal insufficiency, Hearing impairment, Dry skin, Micrognathia, Cryptorch... OMIM:209885
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Abnormal heart morphology, Dilatation of the ventricular cavity, Thickened ... ORPHA:85438
Encephalopathy, Ethylmalonic
Chronic diarrhea, Acrocyanosis, Petechiae, Failure to thrive OMIM:602473
Ethylmalonic Encephalopathy
Diarrhea, Acrocyanosis, Petechiae, Failure to thrive ORPHA:51188
Boutonneuse Fever
Vasculitis, Diarrhea, Petechiae, Nausea, Respiratory failure ORPHA:83313
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Emphysema, Abnormal fingernail morphology, Pulmonary arterial hyperten... ORPHA:1164
Restrictive Dermopathy 1
Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Sparse eyelashes, Absent eyelashes, Neonat... OMIM:275210
Congenital Ichthyosiform Erythroderma
Alopecia, Failure to thrive, Hypohidrosis, Short stature, Abnormality of the nail ORPHA:79394
Ritscher-Schinzel Syndrome 4
Downslanted palpebral fissures, Curly hair OMIM:619435
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Downslanted palpebral fissures ORPHA:195
Presynaptic Congenital Myasthenic Syndromes
Low-set ears, Gastroesophageal reflux, Microretrognathia, Intermittent episodes of respiratory in... ORPHA:98914
Congenital Myasthenic Syndrome
Low-set ears, Gastroesophageal reflux, Microretrognathia, Intermittent episodes of respiratory in... ORPHA:590
Rodrigues Blindness
Sclerocornea, Microcornea, Sparse hair, Fine hair OMIM:268320
Johnson Neuroectodermal Syndrome
Severe short stature, Choanal atresia, Alopecia, Carious teeth, Anosmia, Failure to thrive, Hypog... ORPHA:2316
Recessive X-Linked Ichthyosis
Desquamation of skin soon after birth, Dry skin, Cryptorchidism, Opacification of the corneal str... ORPHA:461
Focal Facial Dermal Dysplasia 3, Setleis Type
Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline OMIM:227260
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Splenomegaly, Pulmonary infiltrates, Hepatomegaly, Pneumo... OMIM:612387
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... OMIM:620085
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Oral leukoplakia, Esophageal stricture, Intrauterine growth ... OMIM:620133
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Nocturnal hypoventilation, Lipoid p... OMIM:620326
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276556
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma OMIM:610023
Trichohepatoenteric Syndrome 2
Sparse hair, Failure to thrive, Trichorrhexis nodosa, Intrauterine growth retardation, Uncombable... OMIM:614602
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Absent hair, Anhidrosis, Hypohidrosis, Brittle hair, Sparse hair OMIM:614940
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive, Dehydration ORPHA:35710
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Nuclear cataract, Cleft upper lip, Abnormal dental enamel morphology, Dry skin, Oligo... OMIM:601701
Oculodentodigital Dysplasia
Cataract, Microcornea, Abnormality iris morphology, Fine hair, Abnormal fingernail morphology, Cu... ORPHA:2710
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve, Macroglossia OMIM:614501
Trichohepatoenteric Syndrome 1
Low-set ears, Cholestasis, Large placenta, Narrow mouth, Cirrhosis, Curly hair, Brittle hair, Hep... OMIM:222470
Hermansky-Pudlak Syndrome 6
Epistaxis, Recurrent upper respiratory tract infections, Prolonged bleeding time, Bruising suscep... OMIM:614075
Diaphanospondylodysostosis
Low-set ears, Pulmonary hypoplasia, Respiratory insufficiency, Respiratory distress, Hypoplastic ... OMIM:608022
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Mitral regu... OMIM:607014
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Atrial septa... ORPHA:101028
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Protruding tongue, Elevated circulating alanine aminotransferase concentration, Hep... OMIM:608779
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Umbilical hernia, Downslanted palpebral fissures, Cryptorchidism, Hirsutism, Hypospa... OMIM:175700
Galactosialidosis
Corneal opacity ORPHA:351
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Parakeratosis, Generalized reticulate brown pigmentation, Hyperpigmenta... ORPHA:158681
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Micr... ORPHA:324416
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:120433
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges... ORPHA:2513
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Failure to thrive, Respiratory distress, Micrognathia, Polyhydramnios, Low a... ORPHA:329178
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism, Coloboma, Unilateral ptosis OMIM:619318
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Abnormal fingernail morphology, Cataract ORPHA:2278
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Oxygen desaturation on exertion, Pulmonary infiltrates, Tachypnea, We... ORPHA:60025
Stevens-Johnson Syndrome
Erythema, Gastrointestinal hemorrhage, Diarrhea, Acantholysis, Abnormal pleura morphology, Cornea... ORPHA:36426
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia ORPHA:140952
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Low-set ears, Recurrent pneumonia, Sparse lateral eyebrow, Aspiration pneumonia, Respiratory dist... ORPHA:314655
Meier-Gorlin Syndrome 4
Low-set ears, Hypoplasia of the maxilla, Failure to thrive, Thick lower lip vermilion, Emphysema,... OMIM:613804
Liver Disease, Severe Congenital
Dry hair, Diarrhea, Portal inflammation, Recurrent otitis media, Micrognathia, Hepatic steatosis,... OMIM:619991
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276580
Cryptogenic Organizing Pneumonia
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothor... ORPHA:1302
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Mitral regurgitation,... OMIM:608328
Microtriplication 11Q24.1
Keratoconus, Long eyelashes, Thick eyebrow, Upslanted palpebral fissure, Synophrys ORPHA:289522
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Natal tooth, Small nail, Dry skin, Prominent scalp veins, Micrognathia, Narrow mout... OMIM:264090
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Respiratory distress, Hypertrophic cardiomyopathy, Pallor, Ptosis, Respiratory... OMIM:613561
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Aortic root aneurysm, Aortic dissection, Decr... OMIM:154700
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly ORPHA:93474
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Episodic tachypnea, Apnea, Tachycardia, Dysphagia ORPHA:79264
Nicolaides-Baraitser Syndrome
Severe short stature, Highly arched eyebrow, Alopecia, Thick nasal alae, Long eyelashes, Curly ey... ORPHA:3051
Cocaine Intoxication
Pulmonary infiltrates, Pulmonary edema, Tachypnea, Tachycardia, Intestinal perforation, Diffuse a... ORPHA:90068
Marfan Syndrome
Aortic regurgitation, Arterial dissection, Skeletal muscle atrophy, Aortic root aneurysm, Aortic ... ORPHA:558
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Tachycardia, Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Low-set ears, Highly arched eyebrow, Long philtrum, Dry skin, Tented upper lip vermilion, Cryptor... OMIM:619244
X-Linked Creatine Transporter Deficiency
Ileus, Open mouth, Aganglionic megacolon, Cachexia, Ptosis, Abnormal circulating creatine concent... ORPHA:52503
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Bruising susceptibility, Petechiae, Splenomegaly, Prolonged bleeding time OMIM:314050
Vulto-Van Silfhout-De Vries Syndrome
Horizontal eyebrow, Fine hair, Upslanted palpebral fissure, Epicanthus, Widow's peak OMIM:615828
Anophthalmia Plus Syndrome
Eyelid coloboma, Bilateral cleft palate, Blepharophimosis, Spina bifida, Non-midline cleft of the... ORPHA:1104
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cutaneous Small Vessel Vasculitis
Vasculitis, Erythema, Cutis marmorata, Abnormal oral cavity morphology, Purpura, Urticaria ORPHA:889
Orofaciodigital Syndrome I
Dry hair, Carious teeth, Ankyloglossia, Agenesis of corpus callosum, Epicanthus, High palate, Spa... OMIM:311200
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Subungual hyperkeratosis, Carious teeth, Yellow-brown discoloration... ORPHA:69087
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Ectopia lentis, Skin ulcer, Emphysema, Recurrent bronchitis, Chro... OMIM:604571
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Long palpebral fissure, Highly arched eyebrow, Ptosis, Corneal opacity OMIM:620469
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Fine hair, Long eyelashes, Upslanted palpebral fissure, Small for gestati... ORPHA:231137
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricul... OMIM:212138
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
Intellectual Developmental Disorder, Autosomal Dominant 73
Wide nasal bridge, Highly arched eyebrow, Retrognathia, Underdeveloped nasal alae, Prominent nose... OMIM:620450
Flynn-Aird Syndrome
Cachexia, Alopecia, Carious teeth ORPHA:2047
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplasia, ... OMIM:612843
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Muscular dystrophy, Abnormal aortic morphology, Coarctation of aorta, Subva... ORPHA:1052
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Mulibrey Nanism
Wide nasal bridge, Microglossia, Dental malocclusion, Dental crowding, Congestive heart failure, ... OMIM:253250
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Nail dystrophy, Nail dysplasia, Palmoplantar ... OMIM:167210
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular... OMIM:261740
Ehlers-Danlos Syndrome, Classic Type, 2
Epicanthus, Fragile skin, Bruising susceptibility, Recurrent sinusitis OMIM:130010
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Dehydration OMIM:177735
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Ectodermal ... OMIM:129900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Dehydration ORPHA:79312
Trichothiodystrophy 3, Photosensitive
Cataract, Failure to thrive, Trichorrhexis nodosa, Tiger tail banding, Microphthalmia, Developmen... OMIM:616395
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Cachexia, Tubulointerstitial nephritis, Nephrotic syndrome, Abnorm... ORPHA:37042
Fetal Cytomegalovirus Syndrome
Hepatitis, Intrauterine growth retardation, Splenomegaly, Petechiae, Sensorineural hearing impair... ORPHA:294
Hereditary Butyrylcholinesterase Deficiency
Congestive heart failure, Abnormality of the liver, Myocardial infarction, Respiratory failure, R... ORPHA:132
Anti-Glomerular Basement Membrane Disease
Vasculitis, Respiratory insufficiency, Persistence of primary teeth, Pulmonary infiltrates, Purpura ORPHA:375
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Variegate Porphyria
Vomiting, Increased fecal protoporphyrin concentration, Constipation, Tachycardia, Cutaneous phot... OMIM:176200
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Short columella, Abnorm... ORPHA:1248
Keratoderma Hereditarium Mutilans
Alopecia, Osteolysis, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Dermatitis, Atopic
Keratoconus, Cataract, Dry skin, Pallor, Facial erythema, Conjunctivitis OMIM:603165
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Recon Progeroid Syndrome
Dental crowding, Progeroid facial appearance, Dry skin, Hyperconvex thumb nails, Cutaneous photos... OMIM:620370
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Petechiae, Splenomegaly, Hepatomegaly, Urticaria OMIM:603909
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Epicanthus, Ptosis, Blepharophimosis, Keratoglobus OMIM:108145
Xeroderma Pigmentosum, Complementation Group G
Cataract, Small for gestational age, Microphthalmia OMIM:278780
Cardiofaciocutaneous Syndrome 1
Palpebral thickening, Failure to thrive, Downslanted palpebral fissures, Absent eyelashes, Low po... OMIM:115150
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, Rhabdomyolysis, ST segm... ORPHA:466650
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Dilated cardiomyopathy, Palmoplantar keratoderma, Failure to thrive, Co... OMIM:605676
Orbital Margin, Hypoplasia Of
Lower eyelid coloboma, Congenital extraocular muscle anomaly, Lacrimal duct atresia OMIM:165600
Musculocontractural Ehlers-Danlos Syndrome
Hearing impairment, Abnormal mesentery morphology, Narrow mouth, Cryptorchidism, High palate, Abn... ORPHA:2953
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Trichothiodystrophy 6, Nonphotosensitive
Microcornea, Dry skin, Tiger tail banding, Slow-growing hair, Brittle hair, Bilateral sensorineur... OMIM:616943
Craniofrontonasal Syndrome
Axillary pterygium, Downslanted palpebral fissures, Umbilical hernia, Breast hypoplasia, Ridged n... OMIM:304110
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Macroglossia, Hepatosplenomegaly ORPHA:309288
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Sparse body hair, Dry skin, Sparse eyelashes, Absent eyelashes, Abse... OMIM:305100
Familial Melanoma
Abnormal hair morphology, Dry skin, Neoplasm of the stomach, Neoplasm of the pancreas ORPHA:618
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Persistent bleeding after trau... OMIM:609821
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Hepatomegaly, Tachycardia, Jaundice, Purpura, Diffuse alveolar hemor... ORPHA:99827
Wiskott-Aldrich Syndrome
Gingival bleeding, Epistaxis, Recurrent upper respiratory tract infections, Diarrhea, Recurrent p... OMIM:301000
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Intrauterine growth retardation, Nail dystrophy, Ventricular septal defect... ORPHA:75389
Ectodermal Dysplasia And Immunodeficiency 2
Conical tooth, Failure to thrive, Dry skin, Recurrent infection of the gastrointestinal tract, Ch... OMIM:612132
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Desmoplastic Small Round Cell Tumor
Ascites, Cachexia, Weight loss ORPHA:83469
Keutel Syndrome
Short stature, Calcification of cartilage, Alopecia, Ventricular septal defect ORPHA:85202
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Hyperpigmentation of the skin, Sparse hair, Tricho... OMIM:301845
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Long nose, Micrognathia, Retrognathia, Synophrys OMIM:301091
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Wide nasal bridge, Highly arched eyebrow, Alopecia, Carious teeth, Small scrotum, Sparse lateral ... ORPHA:3253
Adams-Oliver Syndrome 2
Alopecia, Small nail, Polymicrogyria, Low anterior hairline, Developmental cataract, Narrow palpe... OMIM:614219
Brooke-Spiegler Syndrome
Abnormal bleeding, Skin ulcer, Hearing impairment, Skin appendage neoplasm, Abnormality of the su... ORPHA:79493
Gombo Syndrome
Microphthalmia OMIM:233270
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Supernumerary nipple, Elevated circulating creatinine concentration... OMIM:614376
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Dry skin, Decreased testicular size, Obesity, Cryptorchidism, Polycystic ovaries, Senso... ORPHA:3085
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Palmoplantar keratoderma, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Frec... OMIM:618373
Alagille Syndrome 2
Long nose OMIM:610205
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Microphthalmia, Isolated 8
Short palpebral fissure, Retinal coloboma, True anophthalmia, Anophthalmia, Entropion, Microphtha... OMIM:615113
Craniofrontonasal Dysplasia
Ridged fingernail, Downslanted palpebral fissures, Camptodactyly of finger, Congenital diaphragma... ORPHA:1520
Hereditary Coproporphyria
Respiratory insufficiency, Facial hirsutism, Long hairs growing from helix of pinna, Extension of... ORPHA:79273
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti... ORPHA:51636
Familial Dysautonomia
Gastroesophageal reflux, Abnormal pleura morphology, Abnormal pupil morphology, Acrocyanosis, Het... ORPHA:1764
Leber Congenital Amaurosis
Cataract, Keratoconus, Encephalocele ORPHA:65
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormal bleeding, Hepatosplenomegaly, Petechiae, Splenomegaly, Hepatomegaly OMIM:612840
Eec Syndrome
Carious teeth, Xerostomia, Dry skin, Sensorineural hearing impairment, Hyperkeratosis, Abnormal p... ORPHA:1896
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, ST segment depression, Syn... ORPHA:358
Xeroderma Pigmentosum
Erythema, Craniofacial hyperostosis, Hearing impairment, Dry skin, Cryptorchidism, Sensorineural ... ORPHA:910
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Weaver Syndrome
Fine hair, Downslanted palpebral fissures, Abnormal fingernail morphology, Camptodactyly of finge... ORPHA:3447
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Intrauterine growth retardation, Agenesis of corpus ca... OMIM:614815
Q Fever
Pneumonia, Vasculitis, Hepatitis, Respiratory distress, Hepatosplenomegaly, Abnormality of the li... ORPHA:781
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Lateral ventricle dilatation, Downturned corners of mouth, Dilated fourth ventricle, Upslanted pa... OMIM:613443
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu... ORPHA:732
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Bloom Syndrome
Neoplasm of the colon, Micrognathia, Stomach cancer, Sparse eyelashes, Telangiectasia, Cutaneous ... ORPHA:125
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Micrognathia, Cryptorchidism, Sparse eyelashes, Absent eyelashes, Tela... OMIM:268400
Nijmegen Breakage Syndrome
Recurrent pneumonia, Anal stenosis, Abnormal hair morphology, Anorectal anomaly, Upslanted palpeb... ORPHA:647
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hearing impairment, Dry skin, Cryptorchidism, Neonatal death, Absent eyelashes, Ectodermal dyspla... OMIM:308205
Wolman Disease
Ascites, Cachexia ORPHA:75233
Shwachman-Diamond Syndrome
Pneumonia, Carious teeth, Delayed eruption of teeth, Pancreatic hypoplasia, Hearing impairment, H... ORPHA:811
Kikuchi-Fujimoto Disease
Vasculitis, Alopecia, Erythema, Palpebral edema, Pleural effusion, Enlargement of parotid gland, ... ORPHA:50918
Phenylketonuria
Dry skin, Blue irides, Fair hair, Cataract OMIM:261600
Nestor-Guillermo Progeria Syndrome
Dry skin, Micrognathia, Mitral regurgitation, Sparse eyelashes, Alopecia, Sparse eyebrow, Thin ve... OMIM:614008
Congenital Analbuminemia
Low pulse pressure ORPHA:86816
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Periventricular heterotopia, Microphthalmia, Simplified gyral pattern OMIM:616171
Sarcoidosis
Abnormal pleura morphology, Arrhythmia, Weight loss, Abnormal nasal mucosa morphology, Hepatomega... ORPHA:797
Pontocerebellar Hypoplasia, Type 1C
Tongue fasciculations, Hearing impairment, Failure to thrive, Respiratory insufficiency, Respirat... OMIM:616081
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Freckling, Short distal phalanx of finger, Brachytelomesophalangy, Hypoplastic toenails ORPHA:1547
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Low-set ears, Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, ... OMIM:610199
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Apical pulmonary opacity, Sinusitis, Pulmonar... ORPHA:449280
Intellectual Developmental Disorder, Autosomal Recessive 5
Postnatal growth retardation, Thick eyebrow, Achilles tendon contracture, Short stature, Sparse h... OMIM:611091
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Agenesis of corpus callosum, Elevated circulating alanine amin... OMIM:608836
Costello Syndrome
Keratoconus, Abnormal hair morphology, Cryptorchidism, Epicanthus, Thickened nuchal skin fold, Po... ORPHA:3071
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Increased endomysi... ORPHA:353
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Ventricu... OMIM:618164
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Failure to thrive, Ileus, Hepatic steatosis, Splenomegaly, Hirsutism, Hepato... OMIM:613327
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Long eyelashes, Cardiomegaly, Hepatomegaly, Wide anterior fontanel,... OMIM:619064
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Situs inversus totalis, Portal hypertension, Splenomegaly, Atrial septal d... OMIM:208540
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin, Cutaneous photosensitivity OMIM:617920
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Midline notch of upper alveolar ridge, Agenesis of corpus callosum,... OMIM:617127
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
9P13 Microdeletion Syndrome
Wide nasal bridge, Highly arched eyebrow, Low-set ears, Microretrognathia, Umbilical hernia, Recu... ORPHA:324313
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss, Dehydration ORPHA:171876
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Sparse eyelashes, Hypohidrosis, Slow-growing hair, Sparse hair, Sparse scalp hair OMIM:618535
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Hepatosplenomegaly, Epiphyseal stippling, Mitral r... OMIM:614866
Mercury Poisoning
Hypotension, Respiratory distress, Interstitial pneumonitis, Episodic vomiting, Dyspnea, Nausea, ... ORPHA:330021
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Broad uvula, Retrognathia, Bruising susceptibility, Ectopia len... OMIM:614816
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema, Stomatitis OMIM:618307
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Anhi... OMIM:604536
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Wide nasal bridge, Neonatal respiratory distress, Failure to thrive, Respiratory insufficiency, M... OMIM:618356
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia, Small for ge... ORPHA:324575
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Desbuquois Syndrome
Severe short stature, Disproportionate short-limb short stature, Camptodactyly of finger, Ventric... ORPHA:1425
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Polyhydramnios, Cachexia ORPHA:2774
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Anaplastic Thyroid Carcinoma
Goiter, Respiratory distress, Nodular goiter, Tracheoesophageal fistula, Weight loss, Dyspnea, Dy... ORPHA:142
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Warburg-Cinotti Syndrome
Symblepharon, Limbal stem cell deficiency, Corneal neovascularization, Epicanthus, Pneumothorax, ... OMIM:618175
Hartnup Disorder
Short stature, Glossitis, Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria OMIM:234500
Meier-Gorlin Syndrome 1
Low-set ears, Hearing impairment, Atresia of the external auditory canal, Micrognathia, Narrow mo... OMIM:224690
Lelis Syndrome
Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor... ORPHA:140936
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Decreased testicular size, Decreased body weight, Short stature, Mandi... ORPHA:93950
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dry hair, Coarse hair, Dilated cardiomyopathy, Myofiber disarray, Nail dy... OMIM:620519
Enteric Anendocrinosis
Dehydration ORPHA:83620
Rabson-Mendenhall Syndrome
Premature graying of hair, Dry skin, Reduced subcutaneous adipose tissue, High palate, Macrotia, ... ORPHA:769
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Hypohidrosis, Sparse body hair ORPHA:1810
Mogs-Cdg
Alopecia, Fair hair, Long eyelashes, Hepatosplenomegaly, Hirsutism, Cardiomegaly, Left ventricula... ORPHA:79330
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Hypertrichosis, Respiratory distress, Hypertrophic cardiomyopathy, Long eyelashes, ... ORPHA:505248
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Branchioskeletogenital Syndrome
Carious teeth, Downturned corners of mouth, Ureteral stenosis, Downslanted palpebral fissures, Bl... ORPHA:1299
Geleophysic Dysplasia 1
Aortic valve stenosis, Joint contracture of the hand, Congestive heart failure, Camptodactyly of ... OMIM:231050
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Abnormal salivary gland morphology... OMIM:181000
Drug-Induced Lupus Erythematosus
Dyspnea, Prolonged QTc interval, Petechiae, Pericarditis ORPHA:231111
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Bruising susceptibility, Petechiae OMIM:225310
Hypophosphatasia
Emphysema, Abnormality of the dentition, Failure to thrive in infancy, Respiratory insufficiency ORPHA:436
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nasal bridge, Cataract, Chylothorax, Skin ulcer, Long philtrum, Abnormal hair morphology, Dr... ORPHA:2526
Whistling Face Syndrome, Recessive Form
Whistling appearance, Short palpebral fissure, Microglossia, Long philtrum, Telecanthus, Narrow m... OMIM:277720
Vogt-Koyanagi-Harada Disease
Cataract, Premature graying of hair, Abnormal eyebrow morphology, Abnormal eyelash morphology, Po... ORPHA:3437
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Aor... ORPHA:261330
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Wide nasal bridge, Failure to thrive, Respiratory distress, Intrauterine growth retardation, Micr... ORPHA:261304
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Broad nasal tip, Abnormality of the uterus, Hypertrichosis, Postnatal growth retardation, Microgn... ORPHA:1655
Meier-Gorlin Syndrome 6
Gastroesophageal reflux, Microretrognathia, Conductive hearing impairment, Failure to thrive, Umb... OMIM:616835
Coach Syndrome 1
Hepatic fibrosis, Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concent... OMIM:216360
Trisomy 18
Narrow palate, Chiari malformation, Growth delay, Intrauterine growth retardation, Narrow mouth, ... ORPHA:3380
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Intrauterine growth retardation, Obesity, Sensorineural hearing impairment, Ep... OMIM:619737
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Decreased testicular size, Prominent nasal bridge, Cryptorchidism, Pat... ORPHA:85279
Frontonasal Dysplasia 1
Cataract, Epicanthus, Ptosis, Coloboma, Microphthalmia, Widow's peak OMIM:136760
Riddle Syndrome
Pneumonia, Erythema, Recurrent pneumonia, Diarrhea, Neonatal asphyxia, Bronchitis, Otitis media, ... ORPHA:420741
Thrombocytopenia 5
Epistaxis, Bruising susceptibility, Petechiae OMIM:616216
Mgat2-Cdg
Gastroesophageal reflux, Abnormal bleeding, Dental crowding, Abnormal earlobe morphology, Promine... ORPHA:79329
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Congestive heart failure OMIM:619355
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormal eyelash morphology, ... ORPHA:1006
Mucopolysaccharidosis-Plus Syndrome
Wide nasal bridge, Recurrent pneumonia, Coarse hair, Congestive heart failure, Respiratory distre... OMIM:617303
Bohring-Opitz Syndrome
Wide nasal bridge, Cholelithiasis, Vomiting, Annular pancreas, Retrognathia, Cleft lip, Hypertric... ORPHA:97297
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Failure to thrive, Microphthalmia OMIM:274270
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Pancreatic hypoplasia, Failure to thrive, Umbilical hernia, Respirat... ORPHA:2255
Isaacs Syndrome
Weight loss ORPHA:84142
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Dehydration ORPHA:556030
Microphthalmia, Syndromic 12
Wide nasal bridge, Retrognathia, Intestinal malrotation, Micrognathia, Cryptorchidism, Neonatal d... OMIM:615524
Nijmegen Breakage Syndrome
Choanal atresia, Malar prominence, Intrauterine growth retardation, Micrognathia, Premature ovari... OMIM:251260
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Disproportionate short stature, Bulbous nose, Anteverted nares, Micrognat... ORPHA:508533
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Macrotia, Recurrent otitis media, Downslanted palpebral fissures, Micrognathia... ORPHA:3304
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Limb hypertonia, Ventricular septal defect OMIM:609460
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Wide nasal bridge, Bifid uvula, Abnormality of the dentition, Cataract, Low-set ears, Hearing imp... OMIM:300968
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Failure to thrive, Atelectasis, Hepatocellular necrosis, Respiratory insufficiency, Hep... OMIM:618278
Scorpion Envenomation
Acute pancreatitis, Erythema, Mydriasis, Vomiting, Diarrhea, Prominent U wave, Cardiogenic shock,... ORPHA:466677
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... ORPHA:274
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Temtamy Syndrome
Telecanthus, Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1777
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Downslanted palpebral fissures, Intrauterine growth retardation, Tented upper lip vermilion, Thin... ORPHA:371364
Cutis Laxa-Marfanoid Syndrome
Emphysema, Redundant skin ORPHA:171719
46,Xy Sex Reversal 4
Long philtrum, Elevated circulating creatinine concentration, Ureteropelvic junction obstruction,... OMIM:154230
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Myoectodermal Gonadal Dysgenesis Syndrome
Low-set ears, Elevated circulating luteinizing hormone level, Dry skin, Frontal upsweep of hair, ... OMIM:618419
Digeorge Syndrome
Low-set ears, Recurrent otitis media, Micrognathia, Intervertebral disk degeneration, Hepatic ste... OMIM:188400
Congenital Myopathy 14
Apnea, Decreased fetal movement, Respiratory insufficiency due to muscle weakness, Polyhydramnios... OMIM:618414
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Sparse pubic hair, Microcornea, Telecanthus, Ptosis, Blepharophimosis, Nar... OMIM:110100
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Left ventricular hypertrophy, Atrial septal defect, Left-to-right shunt OMIM:620510
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect OMIM:620072
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Downslanted palpebral fissures, Periventricular heterotopia, Epicanthus, Microphthalmia... OMIM:614105
Trichorhinophalangeal Syndrome, Type Ii
Low-set ears, Carious teeth, Hearing impairment, Hyperplasia of the maxilla, Recurrent otitis med... OMIM:150230
Satoyoshi Syndrome
Alopecia universalis, Alopecia, Osteolytic defects of the phalanges of the hand, Short stature, S... OMIM:600705
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, Mu... ORPHA:324604
Dyskeratosis Congenita, Autosomal Dominant 2
Abnormality of the dentition, Hepatic fibrosis, Oral leukoplakia, Failure to thrive, Premature gr... OMIM:613989
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Skeletal muscle atrophy, Delayed puberty, Short stature, Limb joint contracture OMIM:612079
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon, Microphthalmia OMIM:123570
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Dehydration OMIM:214150
Ifap Syndrome 2
Cataract, Atrichia, Keratitis, Nail dystrophy, Keratoconjunctivitis sicca, Sparse hair OMIM:619016
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Tortuous cerebral arteries OMIM:616603
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Alopecia, Depressed nasal bridge, Fine hair, Underdeveloped nasal alae, Hypogonadi... ORPHA:228390
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Basal ganglia calcification, Cerebral calcification, Hepatosplenomegaly, P... OMIM:619487
Myasthenic Syndrome, Congenital, 10
Ptosis, Tongue atrophy, Mildly elevated creatine kinase OMIM:254300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Ventricular septal defect... ORPHA:464311
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Carious teeth, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onych... OMIM:614564
Anauxetic Dysplasia 2
Small nail, Intrauterine growth retardation, Nail dysplasia, Short stature, Macroglossia, Flexion... OMIM:617396
Plague
Inflammation of the large intestine, Diarrhea, Hearing impairment, Dry skin, Ileitis, Arrhythmia,... ORPHA:707
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Erythema, Cholestasis, Dry skin, Hepatosplenomegaly, Micrognathia, Cleft soft palat... OMIM:619503
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial occlusion, Abnormal vascular morphology, Arterial calcification, Arterial tortuosity, Ab... ORPHA:289601
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Angioedema, Emphysema, Pleural effusion, Splenomegaly, Sensorineural hearing impairment... ORPHA:36412
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal aortic morphology, Congenital diaphragmatic hernia, Abnormality of ... ORPHA:1166
Lipoid Proteinosis
Abnormal oral mucosa morphology, Nasal polyposis, Microglossia, Thick lower lip vermilion, Alopec... ORPHA:530
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven... ORPHA:508498
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Palmar hyperhidrosis, Nail dystrophy, Patchy alopecia, Fragile nails OMIM:226650
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypertrichosis, Dry skin, Advanced eruption of teeth, Onychauxis, High palate, Mandibular prognat... OMIM:262190
Cockayne Syndrome B
Dry hair, Carious teeth, Abnormal hair morphology, Dry skin, Cryptorchidism, Reduced subcutaneous... OMIM:133540
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Low-set ears, Dental crowding, Retrognathia, Downslanted palpebral fissures, R... OMIM:620369
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Palmop... ORPHA:2198
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Stiff Skin Syndrome
Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture OMIM:184900
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Sparse eyebrow, Abnormality of skin pigmentation, Sparse scalp hair OMIM:225050
Fraser Syndrome 3
Abnormal lung lobation, Ureteral agenesis, Cryptophthalmos, Hydrocephalus, Stillbirth, Hypoplasia... OMIM:617667
Noonan Syndrome 12
Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal defect OMIM:618624
Marburg Hemorrhagic Fever
Diarrhea, Excessive bleeding after a venipuncture, Jaundice, Tachycardia, Shock, Bradycardia, Blo... ORPHA:99826
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Furrowed tongue, Abnormal toenail morphology, Low posterior hairline, Short ph... ORPHA:1387
Anonychia With Flexural Pigmentation
Dry skin, Anonychia OMIM:106750
Thyroid Dyshormonogenesis 1
Goiter, Umbilical hernia, Dry skin, Constipation, Macroglossia OMIM:274400
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... ORPHA:1529
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Bone Dysplasia, Lethal Holmgren Type
Diarrhea, Failure to thrive, Respiratory insufficiency, Hypertrophic cardiomyopathy, Redundant ne... ORPHA:1842
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Costello Syndrome
Low-set ears, Micrognathia, Epicanthus, Arrhythmia, Thin nail, Curly hair, High palate, Sparse ha... OMIM:218040
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Tented upper lip vermilion, Cryptorchidism, Decreased fetal movement, Ptosis, High pal... ORPHA:98905
Developmental And Epileptic Encephalopathy 95
Highly arched eyebrow, Long nose, Cryptorchidism OMIM:618143
Ebstein Malformation Of The Tricuspid Valve
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... ORPHA:1880
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Severe short stature, Failure to thrive, Retrognathia, Bulbous nose, Prominent nose, Micrognathia... ORPHA:3047
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short palpebral fissure, Gastroesophageal reflux, Downslanted palpebral fissures, Intrauterine gr... OMIM:613604
Giant Cell Arteritis
Vasculitis, Alopecia, Epistaxis, Conductive hearing impairment, Skin ulcer, Hearing impairment, G... ORPHA:397
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Broad nasal tip, Failure to ... OMIM:620157
Uv-Sensitive Syndrome 3
Telangiectasia, Dry skin, Cutaneous photosensitivity OMIM:614640
Glutamine Deficiency, Congenital
Wide nasal bridge, Erythema, Low-set ears, Neonatal respiratory distress, Apnea, Neonatal death, ... OMIM:610015
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
21Q22.11Q22.12 Microdeletion Syndrome
Low-set ears, Short palpebral fissure, Dental crowding, Downturned corners of mouth, Small nail, ... ORPHA:261323
Noonan Syndrome 1
Low-set ears, Hearing impairment, Dry skin, Micrognathia, Cryptorchidism, Sensorineural hearing i... OMIM:163950
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy... ORPHA:70472
Fontaine Progeroid Syndrome
Low-set ears, Aplastic/hypoplastic lacrimal glands, Small nail, Micrognathia, Narrow mouth, Crypt... OMIM:612289
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... OMIM:619149
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Prolonged bleeding time, Menorrhagia OMIM:614201
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo... ORPHA:1809
Preeclampsia
Chronic kidney disease, Abnormality of the hepatic vasculature, Elevated circulating hepatic tran... ORPHA:275555
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Aplasia/Hypoplasia of the earlobes, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, A... ORPHA:1555
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Cutis laxa OMIM:614100
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Hepatosplenomegaly, Mitral regurgitation, Splenomegaly, Bicuspid aortic valve OMIM:613563
Thyrotropin-Releasing Hormone Deficiency
Dry skin, Constipation OMIM:275120
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Fryns Syndrome
Low-set ears, Abnormal helix morphology, Small nail, Cryptorchidism, Blepharophimosis, Narrow pal... OMIM:229850
Mosaic Trisomy 16
Craniofacial asymmetry, Meckel diverticulum, Premature birth, Anteriorly placed anus, Hearing imp... ORPHA:1708
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Micrognathia, Decreased body weight, Ptosis, Respir... OMIM:300580
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Erythema, Recurrent aphthous stomatitis, Intes... ORPHA:343
X-Linked Hypohidrotic Ectodermal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hypohidrosis, Sparse body hair ORPHA:181
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:1338
Adiposis Dolorosa
Sparse pubic hair, Diarrhea, Xerostomia, Bruising susceptibility, Dry skin, Obesity, Sparse axill... ORPHA:36397
Interstitial Nephritis, Karyomegalic
Elevated circulating hepatic transaminase concentration, Nephronophthisis, Glycosuria, Renal tubu... OMIM:614817
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... OMIM:231200
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Recurrent upper respiratory tract infections, Cholelithiasis, Hypoplasia of the maxilla, Failure ... OMIM:300534
Follicular Lymphoma
Weight loss, Pleural effusion, Lymphedema ORPHA:545
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Vomiting, Diarrhea, Gastroesophageal reflux, Recurrent corneal erosions, Recurrent infections due... OMIM:223900
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Abnormal lower motor neuron morphology,... ORPHA:93941
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Wide nasal bridge, Hypospadias, Hematocolpos, Carious teeth, Imperforate hymen, Broad nasal tip, ... OMIM:619522
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Epicanthus, Downslanted palpebral fissures, Polymicrogyria OMIM:602501
Adult Syndrome
Absent nipple, Fair hair, Breast hypoplasia, Dry skin, Alopecia of scalp, Oligodontia, Microdonti... OMIM:103285
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Vomiting, Diarrhea, Sparse eyebrow, Dilated cardiomyopathy, Failure to thrive, Dry skin... OMIM:610768
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia ORPHA:318
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Cataract, Alopecia, Coarse hair, Recurrent pneumonia, Hearing impairment, Erythematous... OMIM:158310
Acrogeria
Short foot, Small hand, Irregular hyperpigmentation, Fine hair ORPHA:2500
Congenital Short Bowel Syndrome
Short stature, Sparse hair ORPHA:2301
Menkes Disease
Alopecia, Intrauterine growth retardation, Brittle hair, Short stature, Osteoporosis, Sparse hair OMIM:309400
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Retrognathia, Primary amenorrhea OMIM:191830
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Failure to thrive, Intrauterine growth retardation, Nail dystrophy, Sparse hair OMIM:616353
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small nail, Hepatosplenomegaly, Large placenta, Micrognathia, Cryptorchidism, Narrow mouth, Epica... ORPHA:96334
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Riboflavin Transporter Deficiency
Cachexia, Ptosis, Dysphagia ORPHA:97229
Infantile Sialic Acid Storage Disease
Osteopenia, Fair hair, Failure to thrive, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:269920
Leigh Syndrome, Nuclear
Failure to thrive, Abnormal pattern of respiration, Hepatocellular necrosis, Hypertrichosis, Resp... OMIM:256000
Cockayne Syndrome Type 1
Abnormality of the dentition, Elevated circulating hepatic transaminase concentration, Failure to... ORPHA:90321
Pulmonary Arteriovenous Malformation
Epistaxis, Abnormal bleeding, Gastrointestinal infarctions, Pulmonary hemorrhage, Palpitations, H... ORPHA:2038
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Oral leukoplakia, Dry skin, Leukonychia, Angular cheilitis, Onycholysis, Fragile skin, Follicular... OMIM:616295
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Atrial septal defect, Tac... ORPHA:980
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Gastroesophageal reflux, Downslanted palpebral fissures, Furrowed tongue, Te... OMIM:616449
Hartsfield Syndrome
Microphthalmia, Telecanthus, Ptosis, Downslanted palpebral fissures ORPHA:2117
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Pyoderma gangrenosum, In... ORPHA:49566
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Toe syndactyly, Fine hair, Finger syndactyly, Breast ... ORPHA:978
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Epistaxis, Gastrointestinal hemorrhage, Cataract, Abnormal bleeding, Bruis... ORPHA:79430
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Severe short stature, Alopecia, Retrognathia, Thin eyebrow, Intrauterine growth retardation, Micr... ORPHA:2636
Bronchial Neuroendocrine Tumor
Pneumonia, Hypotension, Cardiogenic shock, Right ventricular failure, Protracted diarrhea, Tricus... ORPHA:97287
Ethylene Glycol Poisoning
Hypotension, Vomiting, Abnormal pattern of respiration, Congestive heart failure, Shock, Cyanosis... ORPHA:31826
Leber Congenital Amaurosis 2
Cataract, Keratoconus OMIM:204100
Primary Sjögren Syndrome
Vasculitis, Usual interstitial pneumonia, Arteritis, Xerostomia, Bronchitis, Skin ulcer, Parotiti... ORPHA:289390
Calcification Of Joints And Arteries
Tibial arterial calcification, Femoral arterial calcification, Intermittent claudication, Iliac a... OMIM:211800
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Lymphoid Interstitial Pneumonia
Centrilobular ground-glass opacification on pulmonary HRCT, Failure to thrive, Subpleural interst... ORPHA:79128
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Arrhythmia, Subvalvular aortic stenosis ORPHA:3191
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Dehydration OMIM:560000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, High palate, Paradoxical respi... OMIM:620011
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Camptodactyly of finger, Tr... OMIM:143095
Mitchell-Riley Syndrome
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, C... OMIM:615710
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Cachexia, Ptosis, Abnormality ... ORPHA:1876
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... ORPHA:391665
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy, Diasta... OMIM:252500
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Respiratory distress, Pleural effusion, Pneumothorax, Weight loss, Dyspnea, Bronchiecta... ORPHA:411703
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Vomiting, Small for gestational age, Failure to thrive, Respiratory insu... OMIM:613658
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio... ORPHA:398124
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Low-set ears, Retrognathia, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine g... ORPHA:1194
Xfe Progeroid Syndrome
Corneal scarring, Absence of subcutaneous fat, Enamel hypoplasia OMIM:610965
Refsum Disease
Cataract, Cardiomyopathy, Respiratory insufficiency, Dry skin, Splenomegaly, Sensorineural hearin... ORPHA:773
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve OMIM:176690
Warburg Micro Syndrome 4
Microcornea, Hirsutism, Low anterior hairline, Ptosis, Developmental cataract, Microphthalmia, Pe... OMIM:615663
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory failure, Cryptorchidism, Respiratory insufficiency ORPHA:370968
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Long philtrum, Downslanted palpebral fissures, Diastema, Macrodontia, Long eye... OMIM:212066
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Nasal polyposis, Neonatal respiratory distress, Recurrent otitis media, Recu... OMIM:608647
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Prominent eyelashes, Failure to thrive, Long philtrum, Gingival overgrowth, ... OMIM:619179
Atelosteogenesis Type I
Low-set ears, Pulmonary hypoplasia, Telecanthus, Micrognathia, Polyhydramnios, Malrotation of col... ORPHA:1190
Hemochromatosis, Type 1
Alopecia, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Osteoporosis OMIM:235200
Intermediate Nemaline Myopathy
High, narrow palate, Low-set ears, Long philtrum, Decreased fetal movement, Polyhydramnios, Dysph... ORPHA:171433
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Warburg Micro Syndrome 3
Cataract, Microcornea, Hypertrichosis, Polymicrogyria, Low anterior hairline, Blepharophimosis, D... OMIM:614222
Trisomy 8P
Abnormal middle ear morphology, Cryptorchidism, Low posterior hairline, Short nose, Annular pancr... ORPHA:264450
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Alopecia, Rickets, Rickets of the lower limbs, Sparse bone trabe... OMIM:600785
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Splenomegaly, Sparse eyelashes, Scarring alopecia of scalp, Hep... ORPHA:59303
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Erythema, Neonatal respiratory distress, Gastroesophageal reflux, Intrauterine grow... OMIM:614653
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Ungual fibroma, Pulmonary lymph... ORPHA:538
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal angiodysplasia,... ORPHA:903
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstructi... OMIM:603041
Ichthyosis Vulgaris
Dry skin OMIM:146700
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Petechiae OMIM:611490
Idiopathic Hypereosinophilic Syndrome
Angioedema, Hepatosplenomegaly, Cutis marmorata, Pulmonary infiltrates, Dysphagia, Portal fibrosi... ORPHA:3260
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... OMIM:253700
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficiency, Oral ulc... ORPHA:567544
Multiple Acyl-Coa Dehydrogenase Deficiency
Vomiting, Hepatic periportal necrosis, Respiratory distress, Telecanthus, Hepatic steatosis, Neon... OMIM:231680
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyebrow, Coarse hair, Microcornea, Downslanted palpebral fissures, Sparse eyelas... ORPHA:35173
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Huntington Disease-Like 2
Weight loss ORPHA:98934
Bresek Syndrome
Alopecia, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Neonatal de... ORPHA:85284
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Growth delay, Failure to thrive, Hypocystinemia, Intrauterine growth retarda... OMIM:617744
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Wide nasal bridge, Long philtrum, Dry skin, Encopresis, Nail dystrophy OMIM:620502
Teebi-Shaltout Syndrome
Aortic valve stenosis, Camptodactyly, Ventricular septal defect OMIM:272950
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Ecchymosis OMIM:614009
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Tongue fasciculations, Hearing impairment, Respiratory insufficiency, Respiratory... OMIM:211530
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration, Parathyroid adenoma ORPHA:122
Epilepsy, Progressive Myoclonic, 9
Microglossia, Agenesis of corpus callosum OMIM:616540
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Carious teeth, Decreased circulating carnitine concentration, Abnormal circulating selenium conce... ORPHA:89842
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Scaling skin, Gingivitis, Hyperkeratosis OMIM:614457
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract OMIM:601811
Even-Plus Syndrome
Severe short stature, Highly arched eyebrow, Patent foramen ovale, Atrial septal defect, Sparse h... OMIM:616854
Carnitine Deficiency, Systemic Primary
Failure to thrive, Dehydration OMIM:212140
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Recurrent upper respiratory tract infections, Delayed eruption of teeth, Hearing impair... ORPHA:508542
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Chylothorax, Subdural hemorrhage, Respiratory distress, Decreased fetal mo... OMIM:620278
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Intrauterine growth retardation, Abdominal obesity, Short stature, Small for ge... OMIM:300869
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Decreased body weight, Coloboma, Shallow orbits, Microphthalmia, Iris tran... OMIM:617306
Schwartz-Jampel Syndrome
Pursed lips, Abnormality of the ureter, Narrow mouth, Decreased body weight, Generalized hirsutis... ORPHA:800
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Multiple joint contractures, Ventricular septal defe... ORPHA:464306
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Sparse eyebrow, Depressed na... ORPHA:178303
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Poor wound healing, Bruising susceptibility, Striae distensae, Obesity, Ecchym... OMIM:219090
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Skin ulcer, Conjunctivitis, Nasal mucosa vasculitis, Resp... OMIM:608710
Meckel Syndrome 14
Low-set ears, Hepatic fibrosis, Microretrognathia, Occipital encephalocele, Retrognathia, Cardior... OMIM:619879
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Long philtrum, Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair OMIM:619691
Ddost-Cdg
Gastroesophageal reflux, Failure to thrive, Dry skin, Hepatic steatosis, Constipation ORPHA:300536
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae OMIM:187800
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Cholestasis, Hepatosplenomegaly, Hypersplenism, Micrognathia, Congenital hepatic fi... ORPHA:731
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,... OMIM:601346
Prader-Willi Syndrome Due To Translocation
Carious teeth, Micrognathia, Everted lower lip vermilion, Anterior pituitary hypoplasia, Microdon... ORPHA:177907
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Carotid artery stenosis, ... OMIM:602531
Gand Syndrome
Sparse hair OMIM:615074
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Failure to thrive, Bicuspid aortic valve, Atrial septal defect, Hyperconv... OMIM:619721
Gm1 Gangliosidosis
Low-set ears, Aspiration pneumonia, Hepatosplenomegaly, Narrow mouth, Generalized hirsutism, Weig... ORPHA:354
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Diarrhea, Poor wound healing,... ORPHA:99889
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Dyskeratosis Congenita
Carious teeth, Periodontitis, White hair, Premature graying of hair, Displacement of the urethral... ORPHA:1775
Meckel Syndrome, Type 1
Low-set ears, Occipital encephalocele, Natal tooth, Large placenta, Micrognathia, Cryptorchidism,... OMIM:249000
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short lingual frenulum, Upslanted palpebral fissure, Abnormal palat... ORPHA:3241
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Nail dystrophy, Cerebellar hypopla... OMIM:615190
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation, Postnatal growth retardation, Narrow mouth, High palate, Hypospadia... OMIM:611209
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Harel-Yoon Syndrome
Upslanted palpebral fissure, Developmental cataract, Corneal opacity OMIM:617183
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Failure to thrive, Downslanted palpebral fissures, Respiratory distress, Mic... OMIM:608799
Proximal Spinal Muscular Atrophy
Tongue fasciculations, Neonatal respiratory distress, Gastroesophageal reflux, Gastroparesis, Hyp... ORPHA:70
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Neonatal respiratory distress, Failure to thrive, Respiratory distress, Sens... ORPHA:209905
Kanzaki Disease
Thick lower lip vermilion, Dry skin, Tortuosity of conjunctival vessels, Petechiae, Sensorineural... OMIM:609242
Mucopolysaccharidosis, Type Iiib
Coarse hair, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomegaly, Asymmetric septal hypertrophy, ... OMIM:252920
Hypomelanosis Of Ito
Cataract, Alopecia, Iris coloboma OMIM:300337
Autosomal Agammaglobulinemia
Failure to thrive, Dehydration ORPHA:33110
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Widely spaced teeth, Respiratory distress, Micrognathia, Wide mouth, Macrotia OMIM:300934
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Gastrointestinal hemorrhage, Premature graying of hair, Intrauterine growth ret... OMIM:617341
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Dry skin, Corneal neovascularization, Splenomegaly, Punctate keratitis, Kerato... OMIM:617388
Variant Abeta2M Amyloidosis
Hepatic amyloidosis, Reduced left ventricular ejection fraction, Gastrointestinal infarctions, Ab... ORPHA:314652
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cirrhosis, Portal hypertension OMIM:210050
Morquio Syndrome C
Corneal opacity OMIM:252300
Cockayne Syndrome
Carious teeth, Dry hair, Postnatal growth retardation, Delayed eruption of primary teeth, Cachexi... ORPHA:191
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair, Astigmatism, Upslanted palpebral fissure, Epicanthus, Long palpebral fissure, Narrow p... ORPHA:363686
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:618321
15Q24 Microdeletion Syndrome
Abnormality of the dentition, High anterior hairline, Failure to thrive, Long philtrum, Downslant... ORPHA:94065
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Abnormality of the liver, Ventilator dependence with inability to wean, Hep... ORPHA:254864
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia, Sparse hair, Small for gestational age OMIM:610756
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Cholera
Hypovolemic shock, Hypotension, Vomiting, Diarrhea, Aspiration pneumonia, Palmoplantar cutis laxa... ORPHA:173
Igg4-Related Ophthalmic Disease
Abnormality of the sphenoid sinus, Abnormality of the anterior pituitary, Abnormal lacrimal gland... ORPHA:449563
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Bilateral ptosis, Corneal scarring, Corneal neovascularization, Achilles tendon contracture, Limb... ORPHA:404454
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Respiratory insufficiency OMIM:611722
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin, Macroglossia, Umbilical hernia OMIM:275100
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Dry skin, Constipation, Umbilical hernia ORPHA:95715
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Ground-glass opacification,... ORPHA:133
Adnp Syndrome
Low-set ears, Oral-pharyngeal dysphagia, Cryptorchidism, Chronic constipation, Slanting of the pa... ORPHA:404448
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Right ventricular failure, Palpitations, Facial telangiectasia, Heart murmur, Hepatic c... ORPHA:100085
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:153670
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Nail dystrophy, Microphthalmia OMIM:300887
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Right ve... ORPHA:199241
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Polymicrogyria, Aniridia, Bil... OMIM:106210
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Mycophenolate Mofetil Embryopathy
Eyelid coloboma, Hypoplastic toenails, Agenesis of corpus callosum, Orofacial cleft, Tracheoesoph... ORPHA:268249
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Abnormality of the dentition ORPHA:2101
Autosomal Recessive Cutis Laxa Type 1
Dermatochalasis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Small bowel diverticu... ORPHA:90349
Severe Generalized Junctional Epidermolysis Bullosa
Fragile skin, Abnormality of the nail, Abnormal oral mucosa morphology, Alopecia, Abnormal cornea... ORPHA:79404
Hyperekplexia 4
High palate, Respiratory failure, Umbilical hernia OMIM:618011
Malignant Peritoneal Mesothelioma
Ascites, Weight loss, Pedal edema ORPHA:168811
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Sulfite Oxidase Deficiency, Isolated
Ectopia lentis, Fine hair OMIM:272300
Diamond-Blackfan Anemia 11
Short stature, Unilateral renal agenesis, Eyelid coloboma, Bilateral cleft palate OMIM:614900
Bone Marrow Failure Syndrome 3
Hearing impairment, Small nail, Micrognathia, Cryptorchidism, Oral ulcer, Epicanthus, Pancreatic ... OMIM:617052
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Axillary pterygium, Congenital pyloric atresia, Nail dystrophy, Death in infancy, Oral mucosal bl... OMIM:226730
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Low-set ears, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Int... ORPHA:251071
Seckel Syndrome
Tooth agenesis, Abnormal dental enamel morphology, Downslanted palpebral fissures, Intrauterine g... ORPHA:808
Auriculocondylar Syndrome
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Abnormal pinna morphology, Dif... ORPHA:137888
Leukocyte Adhesion Deficiency Type Ii
Recurrent otitis media, Protruding tongue, Hepatomegaly, Long eyelashes, Low anterior hairline, C... ORPHA:99843
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Generalized osteoporosis, Osteopenia, Rhizomelia, Elbow flexion contracture, Thick eyebrow, Conge... OMIM:245600
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Multiple Mitochondrial Dysfunctions Syndrome 3
Retrognathia, Respiratory insufficiency, Intrauterine growth retardation, Polyhydramnios, High pa... OMIM:615330
Congenital Lethal Erythroderma
Dry skin, Failure to thrive, Respiratory insufficiency, Urticaria ORPHA:1954
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Pulmonary venous hypertension, Pulmonary infiltrates, Weight loss, Ir... ORPHA:90060
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Downslanted palpebral fissures, Microphthalmia, Epicanthus, Ptos... ORPHA:284160
Ehlers-Danlos Syndrome, Classic Type, 1
Poor wound healing, Bruising susceptibility, Ectopia lentis, Umbilical hernia, Bowel diverticulos... OMIM:130000
Cockayne Syndrome A
Dry hair, Carious teeth, Dry skin, Cryptorchidism, Reduced subcutaneous adipose tissue, Delayed e... OMIM:216400
Majeed Syndrome
Cachexia, Weight loss, Failure to thrive, Edema ORPHA:77297
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Cataract, Subcapsular cataract ORPHA:414
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Low posterior hairline, Aplasia/Hyp... ORPHA:85194
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Cataract, Downslanted palpebral fissures, Abnormal fingernail morphology, ... ORPHA:444077
Geleophysic Dysplasia 3
Pneumonia, Wide nasal bridge, Long philtrum, Polyhydramnios, Mitral regurgitation, Hepatomegaly, ... OMIM:617809
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Intestinal malrotation, Postnatal growth retardation, Upslanted palp... OMIM:300963
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Nasolacrimal duct obstruction, Unilateral renal agene... ORPHA:141099
Myhre Syndrome
Aortic valve stenosis, Skeletal muscle hypertrophy, Ventricular septal defect, Coarctation of aor... OMIM:139210
Porphyria Variegata
Hypertrichosis, Abnormality of the liver, Ileus, Cutaneous photosensitivity, Nausea, Skin vesicle... ORPHA:79473
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Retrognathia, Hearing impairment, Decreased response to growth hormone sti... OMIM:602782
Pyruvate Dehydrogenase E1-Alpha Deficiency
Wide nasal bridge, Small for gestational age, Long philtrum, Ptosis, Apneic episodes precipitated... OMIM:312170
Congenital Tufting Enteropathy
Weight loss, Failure to thrive, Dehydration ORPHA:92050
Nevus Comedonicus Syndrome
Abnormal hair morphology, Cataract ORPHA:64754
Congenital Tracheal Stenosis
Neonatal asphyxia, Fetal ascites, 5-minute APGAR score of 3, Meckel diverticulum, Abnormal earlob... ORPHA:141127
Gapo Syndrome
Choanal atresia, Alopecia, Sparse eyebrow, Mandibular prognathia, Delayed eruption of teeth, Grow... ORPHA:2067
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Sparse eyebrow, Recurrent pneumonia, Widely spaced teeth, Micrognathia, Upslanted palpebral fissu... ORPHA:496641
Cutis Laxa, Autosomal Recessive, Type Iia
Coarse hair, Failure to thrive, Polymicrogyria, Pachygyria, Downslanted palpebral fissures, Britt... OMIM:219200
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Dysphagia, Cardiomyopathy, Respiratory insufficiency OMIM:255100
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Malar flattening, Short sta... ORPHA:261295
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Scalp-Ear-Nipple Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Duplication of renal pelvis, Breast apla... ORPHA:2036
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Upslanted palpebral fissure, Hernia of the abdominal wall, Uncombable h... ORPHA:3082
Treacher Collins Syndrome 3
Lower eyelid coloboma, Cleft palate, Downslanted palpebral fissures OMIM:248390
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Hypospadias, Vaginal atresia OMIM:605231
Frontonasal Dysplasia 2
Wide nasal bridge, Depressed nasal ridge, Sparse eyebrow, Bifid nasal tip, Depressed nasal bridge... OMIM:613451
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis, Low-output conges... ORPHA:91130
Pauci-Immune Glomerulonephritis
Arteritis, Pulmonary hemorrhage, Oral ulcer, Abnormality of the pulmonary vasculature, Abnormalit... ORPHA:93126
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Sparse eyebrow, Eyelid coloboma, Agenesis of corpus callosum, Sparse ey... ORPHA:306542
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Baralle-Macken Syndrome
Cataract, Hirsutism OMIM:619255
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Wide nasal bridge, Protein-losing enteropathy, Low-set ears, Thickened nuchal skin fold, Hypertri... OMIM:235255
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Palmoplantar keratoderma, Conjunctivitis, Sparse hair OMIM:242150
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai... OMIM:613102
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Paronychia, Perioral erythema, Failure to thrive, Dry skin, Decreased testicular size, ... OMIM:201100
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Intrahepatic cholestasis, Vomiting, Dilated cardiomyopathy, Hepatit... OMIM:614921
Hemochromatosis, Type 3
Cirrhosis, Purpura, Cardiomyopathy OMIM:604250
Secondary Short Bowel Syndrome
Weight loss, Failure to thrive, Dehydration ORPHA:95427
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dystrophy, Nail dysplasia, Flexion contracture, Sparse hair OMIM:242300
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Hypoplasia of the maxilla, Broad nasal tip ORPHA:2776
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Respiratory failure, Decreased fetal movement, Congestive heart failure OMIM:616794
Brucellosis
Arteritis, Hypersplenism, Weight loss, Hepatomegaly, Purpura, Abnormality of the liver, Pleural e... ORPHA:1304
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Peroxisome Biogenesis Disorder 1A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Micrognathia, Cryptorchidism, Protru... OMIM:214100
Ring Chromosome 22 Syndrome
Toenail dysplasia, Thick eyebrow, Pleural effusion, Protruding tongue, Agenesis of corpus callosu... ORPHA:1446
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Kaposi Sarcoma
Diarrhea, Abnormality of the spleen, Abnormality of the liver, Abnormality of the gastrointestina... ORPHA:33276
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Generalized hypotrichosis, Sparse eyebrow, Nuclear cataract, Poor wound healing, Palmoplantar ker... ORPHA:1010
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left... ORPHA:254892
Wiedemann-Steiner Syndrome
Postnatal growth retardation, Low posterior hairline, Elbow hypertrichosis, Generalized hirsutism... OMIM:605130
Dyskeratosis Congenita, Autosomal Dominant 6
Abnormality of the dentition, Oral leukoplakia, Intrauterine growth retardation, Nail dystrophy, ... OMIM:616553
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Mitral valve prolapse, ... OMIM:617402
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Cardiomyopathy, Respiratory distress, Intrauterine growth retardation, Hepatic... ORPHA:26792
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Downslanted palpebra... OMIM:620107
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Macrotia, Abnormal mesentery morphology, Low-set, posteriorly r... ORPHA:2167
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, He... ORPHA:400
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Neonatal respiratory distress, Bilateral ptosis, Respiratory distress, Res... ORPHA:98915
Bathing Suit Ichthyosis
Alopecia, Nail dystrophy, Multiple joint contractures, Hypohidrosis, Sparse hair ORPHA:100976
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Decreased fetal movement, Sensorineural hea... ORPHA:456312
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hepatosplenomegaly, Hypersplenism, Fatal liver failure in infancy, Cachexia, Weight ... ORPHA:275761
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Fetal distress, Respiratory distress, Failure to thrive in infancy, Splenomegaly, Hyperkeratosis,... OMIM:612852
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Hypoalbuminemia, Gastrointe... ORPHA:79076
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal pleural effusion, Fetal chylothorax, Neonatal de... OMIM:620014
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Small thenar eminence, Camptodactyly, Patent ductus arteriosus, Pul... OMIM:619148
Frontofacionasal Dysplasia
Bifid uvula, Cranium bifidum occultum, Ankyloblepharon, Cleft upper lip, Telecanthus, Absent inne... OMIM:229400
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Dysphagia, Respiratory failure, Respiratory insufficiency ORPHA:266
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Decreased response to growth hormone stimulation test, L... OMIM:245590
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short palpebral fissure, Neonatal respiratory distress, Downturned corners of mouth, Cardiomyopat... OMIM:217980
Andersen-Tawil Syndrome
Low-set ears, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectio... ORPHA:37553
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Mandibuloacral Dysplasia
Alopecia, Increased circulating free fatty acid level, Dental crowding, Abnormal tongue morpholog... ORPHA:2457
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Biemond Syndrome Type 2
Obesity, Coloboma, Microphthalmia ORPHA:141333
Spastic Paraplegia 23, Autosomal Recessive
Premature graying of body hair, Multiple lentigines, Vitiligo, Scapular winging, Hyperpigmentatio... OMIM:270750
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Hearing impairment, Micrognathia, Cryptorchidism, Abnormal gastrointestinal tract m... ORPHA:2990
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia OMIM:618235
Faundes-Banka Syndrome
Gastroesophageal reflux, Failure to thrive, Downslanted palpebral fissures, Intrauterine growth r... OMIM:619376
Neurofibroma
Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract... ORPHA:252183
Floating-Harbor Syndrome
Precocious puberty, Hypospadias, Hypoplasia of the maxilla, Carious teeth, Varicocele, Broad nasa... ORPHA:2044
Rere-Related Neurodevelopmental Syndrome
Peters anomaly, Chorioretinal coloboma, Astigmatism, Broad eyebrow, Epicanthus, Ptosis, Blepharop... ORPHA:494344
Melioidosis
Pneumonia, Hepatitis, Parotitis, Shock, Abnormality of the spleen, Respiratory tract infection, A... ORPHA:31202
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Rubinstein-Taybi Syndrome 1
Low-set ears, Facial hypertrichosis, Hearing impairment, Micrognathia, Frontal upsweep of hair, C... OMIM:180849
Congenital Myopathy 10B, Mild Variant
Recurrent pneumonia, High palate, Dysphagia, Respiratory failure, Cleft palate OMIM:620249
Pallister-Hall-Like Syndrome
Microglossia, Occipital encephalocele, Micrognathia, Median cleft upper lip, Short nose, Anterior... OMIM:241800
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Telecanthus, Developmental glaucoma, Corneal opacity ORPHA:1064
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Facial palsy, Mitral regurgitation, Camptodactyly of finger ORPHA:261349
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Satoyoshi Syndrome
Alopecia universalis, Abnormality of the uterus, Abnormal hair morphology, Abnormality of the ova... ORPHA:3130
Slc35A1-Cdg
Pneumonia, Abnormal bleeding, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage... ORPHA:238459
Chitayat Syndrome
Respiratory distress, Thick vermilion border, Polyhydramnios, Abnormal pulmonary interstitial mor... OMIM:617180
Severe Congenital Nemaline Myopathy
Low-set ears, Pulmonary hypoplasia, Decreased fetal movement, Breech presentation, Polyhydramnios... ORPHA:171430
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Short stature, Sparse eyebrow, Sparse hair OMIM:619989
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Dilatation ... ORPHA:90348
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Low-set ears, Diarrhea, Failure to thrive, Micrognathia, Malar flattening, Chronic bro... OMIM:242860
Charge Syndrome
Postnatal growth retardation, Narrow mouth, Epicanthus, Micropenis, Aqueductal stenosis, Holopros... ORPHA:138
Contractural Arachnodactyly, Congenital
Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Mitral regurgitation, Mi... OMIM:121050
Familial Cold Urticaria
Dehydration ORPHA:47045
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Clitoral hypertrophy, Ambiguous genitalia, ... OMIM:264270
Noonan Syndrome 2
Sparse eyebrow, Prominent fingertip pads, Melanocytic nevus, Low posterior hairline, Cubitus valg... OMIM:605275
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Failure... ORPHA:289
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Alopecia, Growth delay, Osteolysis OMIM:176670
Trisomy 13
High, narrow palate, Abnormality of the dentition, Cataract, Low-set ears, Abnormal helix morphol... ORPHA:3378
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Dilated cardiomyopathy, Skin ulcer, Recurrent otitis media, Hepatosplenomegaly, Cutis... OMIM:615688
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Tongue fasciculations, Respiratory insufficiency ORPHA:238329
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Hearing impairment, Absent gallbladder, Epicanthus, Curly hair, Dysphagia, Short no... ORPHA:500150
Silver-Russell Syndrome
Gastroesophageal reflux, Dental crowding, Downturned corners of mouth, Failure to thrive in infan... ORPHA:813
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Epicanthus, Brittle hair, Synophrys OMIM:617412
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Hirsutism, Increased body weight, Osteoporosis OMIM:615830
Greenberg Dysplasia
Low-set ears, Hypoplasia of the maxilla, Retrognathia, Abnormal lung lobation, Hepatosplenomegaly... OMIM:215140
Niemann-Pick Disease, Type C2
Fetal ascites, Neonatal respiratory distress, Respiratory insufficiency, Polyhydramnios, Splenome... OMIM:607625
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia, Cataract, Obesity, Retinal coloboma OMIM:601794
Multiple Sulfatase Deficiency
Cataract, Coarse hair, Thick eyebrow, Corneal opacity ORPHA:585
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Cone-shaped epiphyses of the middle phalanges of the hand, Sparse lateral eyebrow, F... OMIM:190351
Joubert Syndrome 37
Ptosis, Obesity, Sparse hair, Microphthalmia OMIM:619185
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus OMIM:244600
Adrenal Hypoplasia, Congenital
Failure to thrive, Dehydration OMIM:300200
Cranioectodermal Dysplasia
Rhizomelia, Abnormal fingernail morphology, Abnormal toenail morphology, Osteoporosis, Sparse hai... ORPHA:1515
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Opacification of the corneal stroma, Nail dystrop... OMIM:614594
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Respiratory failure OMIM:600561
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Low posterior hairline, Epicanthus, Hernia, Ptosis ORPHA:1912
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Failure to thrive, Dehydration OMIM:214700
Nocardiosis
Pneumonia, Vomiting, Keratitis, Liver abscess, Respiratory distress, Emphysema, Pleural effusion,... ORPHA:31204
Huriez Syndrome
Palmoplantar keratoderma, Small nail, Dry skin, Lack of skin elasticity, Abnormality of the nail ORPHA:384
Acquired Methemoglobinemia
Vomiting, Respiratory distress, Palpitations, Cyanosis, Arrhythmia, Syncope, Dyspnea, Tachycardia... ORPHA:464453
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Hearing impairment, Abnormal earlobe morphology, Micrognathia, Mitral regurgitation, Ab... ORPHA:2556
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent corneal erosions, Corneal scarring, Corneal ulceration OMIM:256810
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Obesity, Retinal coloboma ORPHA:363741
Adams-Oliver Syndrome
Alopecia, Gastrointestinal hemorrhage, Failure to thrive, Hypoplastic fingernail, Portal hyperten... ORPHA:974
Hall-Riggs Syndrome
Coarse hair, Failure to thrive, Epicanthus, Thick hair, Slow-growing hair ORPHA:2107
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Choanal atresia, Depressed nasal bridge, Malar flattening, Hypoplastic labia majora, Fused labia ... OMIM:207410
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Upslanted palpebral fissure, Nail dystrophy, Epicanthus, Brittle hair ORPHA:93947
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Hepatitis, Angioedema, Interstitial pneumonitis, Pulmonary infiltrates, Weight loss, En... ORPHA:139402
Acrocephalopolydactylous Dysplasia
Low-set ears, Hepatic fibrosis, Polysplenia, Hypoplastic colon, Upslanted palpebral fissure, Epic... OMIM:200995
Seckel Syndrome 2
Hypospadias, Microglossia, Growth delay, Microdontia, Cerebellar hypoplasia, Short stature, Cereb... OMIM:606744
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Small nail, Abnormal hair morphology, Hypohidrosis, Thin nail, Anhidrosis, Growth delay OMIM:242100
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Nail dysplasia, Microphthalmia, Scle... ORPHA:139471
Propionic Acidemia
Failure to thrive, Dehydration OMIM:606054
Acrofacial Dysostosis, Palagonia Type
Sparse lateral eyebrow, Thin eyebrow, Low anterior hairline, Sparse eyelashes, Pili torti, Short ... ORPHA:1787
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Aortic aneurys... ORPHA:96121
Arboleda-Tham Syndrome
Low-set ears, Recurrent otitis media, Underdeveloped tragus, Narrow mouth, Epicanthus, Dysphagia,... OMIM:616268
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Ap... ORPHA:990
Ceroid Lipofuscinosis, Neuronal, 10
Wide nasal bridge, Low-set ears, Respiratory insufficiency, Apnea, Neonatal death, Respiratory fa... OMIM:610127
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Downslanted ... ORPHA:193
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Vomiting, Diarrhea, Large for gestational age, Pallor, Pancreatic islet-cell hyperplasia, Increas... ORPHA:263455
Amyotrophic Lateral Sclerosis 28
Dysphagia, Respiratory failure OMIM:620452
Retinitis Pigmentosa 89
Bicuspid aortic valve, Hepatosplenomegaly OMIM:618955
Complement Component 4A Deficiency
Vasculitis, Purpura, Cutaneous photosensitivity OMIM:614380
Optic Atrophy 16
Paroxysmal tachycardia, Sensorineural hearing impairment OMIM:620629
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,... OMIM:300953
Systemic Capillary Leak Syndrome
Hypotension, Diarrhea, Cardiorespiratory arrest, Pleural effusion, Pulmonary edema, Arrhythmia, W... ORPHA:188
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic nerve hypoplasia, Upslanted palpebral fissure, Corneal opacity ORPHA:496790
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Carious teeth, Oral leukoplakia, Small nail, Pterygium, Esophageal stricture, P... OMIM:224230
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Limb-Mammary Syndrome
Dry skin, Aplasia of the ovary, Chronic irritative conjunctivitis, Alopecia, Sparse eyebrow, Clef... ORPHA:69085
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Dehydration OMIM:615453
Acute Adrenal Insufficiency
Hypotension, Diarrhea, Failure to thrive, Dry skin, Recurrent acute respiratory tract infection, ... ORPHA:95409
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Hepatic failure, Prematu... OMIM:620367
Intellectual Developmental Disorder, Autosomal Dominant 54
Gastroesophageal reflux, Dental crowding, Widely spaced teeth, Fetal distress, Dry skin, Apnea, A... OMIM:617799
Sheehan Syndrome
Secondary growth hormone deficiency, Sparse pubic hair, Breast hypoplasia, Dry skin, Palpitations... ORPHA:91355
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Natal tooth, Oral leukoplakia, Palmoplantar keratoderma, ... ORPHA:2309
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Ptosis, Exertional dyspnea, Orthopnea, High palate, Respiratory failure ORPHA:98913
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Micrognathia, Neonatal death, Prominence of the premaxilla, Narrow palpebral fissur... OMIM:614437
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Low-set ears, Short palpebral fissure, Cupped ear, Anteriorly placed anus, L... OMIM:612863
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... OMIM:610910
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Short stature, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:620269
Developmental And Epileptic Encephalopathy 71
Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency OMIM:618328
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Premature graying of hair, Elbow flexion contracture, Decreased body wei... OMIM:616200
Treacher Collins Syndrome 1
Preauricular hair displacement, Downslanted palpebral fissures, Lower eyelid coloboma, Cleft soft... OMIM:154500
Monosomy 18P
Wide nasal bridge, Alopecia, Carious teeth, Micrognathia, Low posterior hairline, Short stature ORPHA:1598
Microcephaly-Capillary Malformation Syndrome
Abnormal hair whorl, Hypoplasia of the maxilla, Small nail, Failure to thrive, Short stature, Sma... OMIM:614261
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival bleeding, Periodontitis, Bruising susceptibility, Umbilical hernia, Gingival recession, ... OMIM:617174
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ... OMIM:277380
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High anterior hairline, Short palpebral fissure, Horizontal eyebrow, Sparse lateral eyebrow, Fail... OMIM:619950
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Narrow nose, Malar flattening, Low anterior hairline, Cleft of chin, C... OMIM:101400
Orthostatic Hypotension 1
Hypomagnesemia, Ptosis, Increased blood urea nitrogen, Nocturia, Elevated circulating dihydroxyph... OMIM:223360
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Low-set ears, Congenital shortened small intestine, Micrognathia, Neonatal death, Pulmonary lymph... OMIM:265380
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Subcapsular cataract, Dry skin, Sparse hair, Polycystic ovaries OMIM:268020
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Facial Clefting, Oblique, 1
Coloboma, Microphthalmia OMIM:600251
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Pancreatic hypoplasia, Failure to thrive, Umbilical hernia, Intest... OMIM:600001
Tonne-Kalscheuer Syndrome
Small nail, Fine hair, Downslanted palpebral fissures, Congenital diaphragmatic hernia, Blue irid... OMIM:300978
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Pterygium, Intrauterine growth retardation, Micrognathia, Cryptorchidi... ORPHA:994
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Distichiasis, Abnormal hair pattern, Sparse hair, ... ORPHA:1807
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Stuve-Wiedemann Syndrome 1
Low-set ears, Short palpebral fissure, Carious teeth, Smooth tongue, Pursed lips, Premature skin ... OMIM:601559
Nemaline Myopathy 8
Decreased fetal movement, Fetal akinesia sequence, Polyhydramnios, Dysphagia, Respiratory failure OMIM:615348
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Alopecia, Sparse eyebrow, Impotence, Aplasia/hypoplasia of the uterus, Abnorma... ORPHA:2232
Auriculocondylar Syndrome 4
Hearing impairment, Question mark ear, Micrognathia, Apnea, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Gastrointestinal dysmotility, Ptosis, Dysphagia, Respiratory failure OMIM:618637
Reactive Arthritis
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Respiratory insufficiency, A... ORPHA:29207
Gelatinous Drop-Like Corneal Dystrophy
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... ORPHA:98957
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight, Respiratory failure ORPHA:890
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Weight loss, Dyspnea, Hy... ORPHA:747
Xeroderma Pigmentosum Variant
Telangiectasia, Dry skin, Cutaneous photosensitivity, Keratitis ORPHA:90342
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypertonic dehydration OMIM:125800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal helix morphology, Hearing impairment, Open mouth, Cryptorchidism, High palate, Gastroeso... ORPHA:453499
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Downslanted palpebral fissures, Submucous cleft hard palate, Premature ventricular contraction, S... OMIM:192445
Systemic Lupus Erythematosus 17
Alopecia OMIM:301080
Tarp Syndrome
Cerebellar vermis hypoplasia, Short palpebral fissure, Hepatic failure, Meckel diverticulum, Fail... OMIM:311900
3-Methylglutaconic Aciduria, Type Viib
Cataract, Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Respiratory distress,... OMIM:616271
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Dilated cardiomyopathy, Arrhythmia, Ptosis, Respiratory insufficiency due to muscle wea... ORPHA:352447
Septo-Optic Dysplasia Spectrum
Dry skin, Obesity, Cryptorchidism, Sensorineural hearing impairment, Constipation, Tracheoesophag... ORPHA:3157
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Xerostomia, Hearing impairment, Cryptorchidism, Sparse eyelashes, Absence of Stens... OMIM:604292
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypertonic dehydration OMIM:304800
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Micrognathia, Oligohydramnios, Malar flattening, Abnormal antihe... ORPHA:2145
Mend Syndrome
Aortic valve stenosis, Limb hypertonia, Abnormal heart morphology ORPHA:401973
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Oligohydramnios, Failure to thrive, Small for gestational age, Dehydration OMIM:208085
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Reduced subcutaneous adipose tissue, Generalized hirsutism, Cirrhosis, Hepatom... ORPHA:363400
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged QRS complex, Supraventri... ORPHA:273
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Hypospadias, Sparse eyebrow, Recurrent pneumonia, Cholelithiasis, Lateral ve... ORPHA:464738
Mucopolysaccharidosis, Type Iiia
Coarse hair, Umbilical hernia, Inguinal hernia, Hirsutism, Synophrys OMIM:252900
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Microphthalmia/Coloboma 12
Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Kleefstra Syndrome 1
Gastroesophageal reflux, Natal tooth, Hearing impairment, Persistence of primary teeth, Obesity, ... OMIM:610253
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Apneic episodes p... OMIM:254210
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Elbow flexion contracture, Prominent scal... ORPHA:536471
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/H... ORPHA:83461
Iga Nephropathy, Susceptibility To, 1
Purpura, Hypertension OMIM:161950
Tangier Disease
Coronary artery stenosis, Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Caro... ORPHA:31150
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Severe Acute Respiratory Syndrome
Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia, Respiratory failure requiri... ORPHA:140896
Schinzel-Giedion Syndrome
Low-set ears, Abnormal helix morphology, Streak ovary, Micrognathia, Hepatoblastoma, Infantile se... ORPHA:798
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Velopharyngeal insufficiency, Cleft upper lip, Downslanted palpebral f... OMIM:154400
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Anhidrosis, Sparse hair, Os... ORPHA:659
Kury-Isidor Syndrome
Growth delay, Alopecia, Ventricular septal defect, Hypertrichosis OMIM:619762
Isolated Permanent Neonatal Diabetes Mellitus
Downturned corners of mouth, Pancreatic hypoplasia, Hearing impairment, Bilateral ptosis, Failure... ORPHA:99885
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Eem Syndrome
Absent eyebrow, Sparse scalp hair, Sparse body hair ORPHA:1897
Neurooculocardiogenitourinary Syndrome
Epicanthus, Coloboma, Peters anomaly, Microphthalmia OMIM:618652
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small nail, Downslanted palpebral fissures, Telecanthus, Astigmatism, Hirsutism, Corneal opacity,... OMIM:301056
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature, Downturned corners of mouth, Elevated circulating creatinine conc... OMIM:301110
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Intrauterine growth retardation, Delayed puberty, Short stature, Sparse hair, Growth d... OMIM:616817
Fetal Alcohol Syndrome
Telecanthus, Generalized hirsutism, Epicanthus, Ptosis, Microphthalmia ORPHA:1915
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Increased circulating prolactin concentration, Umbilical hernia, Goiter, Dry s... ORPHA:90674
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Sparse body hair, Decreased fertility, Cryptorchidism, Polycystic ovaries, Dysmenorrhea, Male pse... ORPHA:90796
Tetraamelia Syndrome 2
Low-set ears, Absent nipple, Microretrognathia, Ankyloglossia, Micrognathia, Bilateral lung agene... OMIM:618021
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Carious teeth, Natal tooth, Branchial cyst, Atresia of the external auditory canal,... OMIM:620186
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair ORPHA:69735
Lowry-Maclean Syndrome
Hypospadias, Hypoplasia of the maxilla, Choanal atresia, Retrognathia, Bilateral cryptorchidism, ... ORPHA:2409
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy, Cerebellar atrophy, Cerebellar cyst, Growth delay OMIM:614678
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Low-set ears, Increased placental thickness, Respiratory insufficiency, Pteryg... ORPHA:1865
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Apneic episodes p... OMIM:605809
Ramos-Arroyo Syndrome
Severe short stature, High anterior hairline, Carious teeth, Xerostomia, Smooth tongue, Long phil... ORPHA:1051
Pseudomyxoma Peritonei
Ascites, Weight loss ORPHA:26790
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Small nail, Failure to thrive, Thin eyebrow, Telecanthus, Corneal opacit... ORPHA:364577
Orofaciodigital Syndrome V
Bifid uvula, Downslanted palpebral fissures, Hamartoma of tongue, Ankyloglossia, Horseshoe kidney... OMIM:174300
Classical Ehlers-Danlos Syndrome
Poor wound healing, Mitral regurgitation, Chronic constipation, Epicanthus, Fragile skin, Rectal ... ORPHA:287
Pfapa Syndrome
Splenomegaly, Abnormal oral cavity morphology, Weight loss, Recurrent pharyngitis, Hepatomegaly ORPHA:42642
Auriculocondylar Syndrome 2B
Postnatal growth retardation, Sparse hair, Failure to thrive, Synophrys OMIM:620458
Pancreatic And Cerebellar Agenesis
Low-set ears, Pancreatic hypoplasia, Failure to thrive, Apnea, Reduced subcutaneous adipose tissu... OMIM:609069
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Respiratory distress, Recurr... OMIM:184260
Dyskeratosis Congenita, Autosomal Recessive 3
Nail dystrophy, Abnormality of skin pigmentation OMIM:613988
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Fructose-1,6-Bisphosphatase Deficiency
Diarrhea, Vomiting, Respiratory distress, Episodic tachypnea, Pallor, Hepatic steatosis, Intermit... ORPHA:348
Oculoauricular Syndrome
Cataract, Microcornea, Nasolacrimal duct obstruction, Posterior synechiae of the anterior chamber... OMIM:612109
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Agenesis of corpus callosum, Low pos... OMIM:618779
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Atelectasis, Pleural effusion, Splenomegaly, Rectal abscess, Hepatomegaly, A... OMIM:306400
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Hypertensio... OMIM:613834
Nanophthalmos
Microphthalmia ORPHA:35612
Thymic Carcinoma
Palpebral edema, Weight loss, Edema ORPHA:99868
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Retrognathia, Umbilical hernia, Intrauterine growth retardation, Large placenta, Open mouth, Redu... ORPHA:254528
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ... ORPHA:353281
Carey-Fineman-Ziter Syndrome
Growth delay, Long philtrum, Downslanted palpebral fissures, Aplasia/Hypoplasia of the tongue, Gl... ORPHA:1358
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Toenail dysplasia, Dental crowding, Conductive hearing impairment, Long philtrum, D... OMIM:617877
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Micrognathia, Death in early adulthood, Narrow nasal ridge, Brittle hair, Hypoplasia of... OMIM:608612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Pachygyria, Cataract, Microphthalmia, Simplified gyral pattern OMIM:251270
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Persistent bleeding after trauma, Bruising susceptibility, Petechiae OMIM:300367
3-Methylglutaconic Aciduria Type 7
Cataract, Cardiomyopathy, Hepatic steatosis, Pneumothorax, Respiratory failure ORPHA:445038
Trichodermodysplasia-Dental Alterations Syndrome
Palmoplantar keratoderma, Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, S... ORPHA:3353
Adams-Oliver Syndrome 4
Toenail dysplasia, Hypoplastic toenails, Microphthalmia OMIM:615297
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Small for gestational age, Fai... OMIM:607143
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Sparse hair, Coarse hair OMIM:118650
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dry skin, High palate, Chronic otitis media OMIM:618010
Gomez-Lopez-Hernandez Syndrome
Alopecia, Anteverted nares, Malar flattening, Short stature, Short nose OMIM:601853
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Dry skin, Scaling skin, Thin vermilion border, Hyperkeratosis OMIM:609180
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Mednik Syndrome
Hepatic fibrosis, Microcolon, Volvulus, Cholestasis, Upslanted palpebral fissure, Death in childh... OMIM:609313
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Hypertrichosis, Amelogenesis imperfecta, Short stature, Mandibular pro... OMIM:601216
17Q12 Microduplication Syndrome
Microphthalmia, Synophrys ORPHA:261272
Isovaleric Acidemia
Dehydration OMIM:243500
Braddock-Carey Syndrome 2
Microphthalmia, Downslanted palpebral fissures OMIM:619981
Cystinosis
Failure to thrive, Dehydration ORPHA:213
Sjogren-Larsson Syndrome
Abnormal hair morphology, Abnormality of the nail, Astigmatism, Opacification of the corneal epit... OMIM:270200
Mitochondrial Pyruvate Carrier Deficiency
Long philtrum, Respiratory distress, Thin upper lip vermilion, Epicanthus, Hepatomegaly OMIM:614741
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Alopecia, Sparse eyebrow, Natal tooth, Abdomin... ORPHA:2108
Hereditary Sensory And Autonomic Neuropathy Type 4
Tongue pain, Bruising susceptibility, Dry skin, Corneal scarring, Alveolar ridge overgrowth, Orth... ORPHA:642
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Respiratory distress, Micrognathia, Thin upper lip vermilion, High... OMIM:615042
Walker-Warburg Syndrome
Cataract, Microcornea, Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Anophthalmia, ... ORPHA:899
Wagro Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Obesity, Ptosis, Corneal opacity OMIM:612469
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Peripheral pulmonary artery stenosis, Tooth malposition, Abnormality of th... ORPHA:2712
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyebrow, Failure to thrive, Polymicrogyria, Unilateral microphthalmos, Alopecia of scalp, ... OMIM:618874
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Intrauterine growth retardation, Decreased body weight, Low anterior hairline, Proport... ORPHA:391408
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Portal hypertension, Nail dystrophy, Cryptorchidism, Pulmon... OMIM:620365
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Low-set ears, Unilateral cleft lip, Large fleshy ears, Hypertrophic cardiomyop... OMIM:616897
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Proteinuria, Delayed puberty, Increased blood urea ni... ORPHA:251004
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Obesity, Eunuchoid habitus, Sparse body hair ORPHA:2234
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Purpura, Petechiae, Sensorineural hearing impairment OMIM:605432
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Doors Syndrome
Low-set ears, Toenail dysplasia, Atresia of the external auditory canal, Aspiration pneumonia, Sh... ORPHA:79500
Pontocerebellar Hypoplasia, Type 4
Polyhydramnios, Dysphagia, Respiratory failure OMIM:225753
Marshall-Smith Syndrome
Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Aspiration pneumonia, ... OMIM:602535
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Alopecia, Moderate postnatal growth retardation, Intrauterine growth retard... ORPHA:1005
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair, Downslanted palpebral fissures ORPHA:251019
Acute Generalized Exanthematous Pustulosis
Cholestasis, Skin vesicle, Scaling skin, Dyspnea, Conjunctivitis, Acantholysis, Cheilitis, Purpura ORPHA:293173
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Conjunctival icterus, Hepatic fibrosis, Biliary cirrhos... ORPHA:53035
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Congestive heart failure, Pleural effusion, Intesti... ORPHA:67
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... ORPHA:99104
Epidermolysis Bullosa Simplex 5A, Ogna Type
Onychogryposis of toenails, Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Yao Syndrome
Diarrhea, Xerostomia, Oral ulcer, Keratoconjunctivitis sicca, Weight loss, Pleuritis, Pericarditis OMIM:617321
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue, Ptosis ORPHA:2743
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Postinfectious Vasculitis
Pneumonia, Palpable purpura, Cerebral vasculitis, Cardiomyopathy, Cutis marmorata, Ischemic strok... ORPHA:48435
Acrodysostosis
Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Irre... ORPHA:950
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Narrow mouth, Glomerulonephritis, Albuminuria, Dysph... ORPHA:90291
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Myopathy OMIM:275630
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Failure to thrive, Nail dystrophy, Hypohidrosis, Sparse hair, Growth delay ORPHA:98813
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Respiratory distress, Intrauterine growth retardation, Neonatal death, ... OMIM:619751
Myotonic Dystrophy 1
Cataract, Cholelithiasis, Frontal balding, Atrial flutter, Respiratory distress, Polyhydramnios, ... OMIM:160900
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Long philtrum, Downslanted palpebral fissures, Eyelid coloboma, Enceph... ORPHA:2211
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... OMIM:612474
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Anterior lenticonus, Gastroesophageal reflux, Vomiting, Keratitis, Failure to thrive, A... ORPHA:1018
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Sparse eyebrow, High anterior hairline, Supernumerary nipple, Downslanted palpebral fissures, Thi... OMIM:620098
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Pde4D Haploinsufficiency Syndrome
Hypospadias, Hypoplasia of the maxilla, Depressed nasal bridge, Abnormal dental enamel morphology... ORPHA:439822
Alopecia Universalis
Alopecia universalis, Vitiligo, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of... ORPHA:701
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Hypertension, Aganglionic megacolon, Hyperconvex nail, Tachycardia, Posteriorly rotat... OMIM:613870
Alg11-Cdg
Retrognathia, Long philtrum, Hearing impairment, Failure to thrive, Dry skin, Episodic vomiting ORPHA:280071
Hereditary Methemoglobinemia
Small for gestational age, Cyanosis, Exertional dyspnea, Lip discoloration, Abnormality of the nail ORPHA:621
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Recurrent respiratory infections, Impaired orop... ORPHA:2004
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Holocarboxylase Synthetase Deficiency
Alopecia, Weight loss, Growth delay ORPHA:79242
Viss Syndrome
Low-set ears, Micrognathia, Cleft soft palate, Chronic constipation, Celiac disease, High palate,... OMIM:619472
Cushing Disease
Poor wound healing, Skin ulcer, Bruising susceptibility, Striae distensae, Flushing, Capillary fr... ORPHA:96253
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Failure to thrive, Respiratory distress, Jaundice, Respiratory failure OMIM:250940
Lissencephaly 8
Cataract, Polymicrogyria, Type II lissencephaly, Microphthalmia, Agyria OMIM:617255
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Sparse eyebrow, Microretrognathia, Natal tooth, Lobulated tongue, Cleft... OMIM:616300
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Small nail, Intrauterine growth retardation, Ventricular septal defect, Absent eyelashe... ORPHA:166035
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Vomiting, Cardiorespiratory arrest, Cardiomyopathy, Congestive heart failure,... ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive, Hypertrophic cardiomyopathy, N... OMIM:614096
Skin Creases, Congenital Symmetric Circumferential, 1
Short palpebral fissure, Microcornea, Upslanted palpebral fissure, Epicanthus, Hypoplastic nipple... OMIM:156610
Nephronophthisis 2
Respiratory insufficiency, Oligohydramnios, Pulmonary insufficiency, Hypertension, Respiratory fa... OMIM:602088
Spondylometaphyseal Dysplasia, X-Linked
Wide nasal bridge, Abnormality of the nail, Respiratory failure, Respiratory insufficiency OMIM:313420
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hypoplastic aortic arch, Mitral valve prolapse, Ventricular septal defect,... OMIM:300166
Insulin-Resistance Syndrome Type B
Pneumonia, Alopecia, Biliary cirrhosis, Abnormality of body weight, Polycystic ovaries, Enlarged ... ORPHA:2298
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n... OMIM:607823
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Recurrent pneumonia, Carious teeth, Anoperineal fistula, Cheilitis, Chapped... ORPHA:158668
ERI1-related disease
Osteopenia, Failure to thrive, Abnormal heart morphology, Intrauterine growth retardation, Ventri... OMIM:608739
Multiple Benign Circumferential Skin Creases On Limbs
Generalized hirsutism, Epicanthus, Microcornea, Microphthalmia ORPHA:2505
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Subcortical band heterotopia, Focal polymicrogyria, Microphthalmia OMIM:615771
Roch-Leri Mesosomatous Lipomatosis
Purpura ORPHA:529
Radio-Renal Syndrome
High, narrow palate, Chylothorax, Retrognathia, Downturned corners of mouth, Respiratory distress... ORPHA:3015
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Horizontal eyebrow, Retinal coloboma, Astigmatism, Epicanthus, Narrow palpebral fissure... OMIM:618571
Cogan Syndrome
Aortic regurgitation, Vasculitis, Large vessel vasculitis ORPHA:1467
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Sparse hair OMIM:616819
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Wide nasal bridge, Aplasia/Hypoplasia of the earlobes, Retrognathia, Bruising susceptibility, Dow... ORPHA:98791
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia ORPHA:496689
Congenital Neuronal Ceroid Lipofuscinosis
Wide nasal bridge, Low-set ears, Neonatal respiratory distress, Aplasia/Hypoplasia of the externa... ORPHA:168486
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Furrowed tongue, Open mouth, Narrow mouth, Ptosis, Cleft palate, Short sta... OMIM:615065
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Dehydration OMIM:251000
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity, Ectropion, Hypopigmentation of... ORPHA:2719
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor... ORPHA:251510
Marden-Walker Syndrome
High, narrow palate, Pyloric stenosis, Inferior cerebellar vermis hypoplasia, Renal hypoplasia, L... OMIM:248700
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Wide nasal bridge, Horizontal eyebrow, Hearing impairment, Umbilical hernia, Long eyelashes, Wide... OMIM:620475
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Sparse pubic hair, Hypoplasia of the maxilla, Breast aplasia, Decreased testicular size, Eunuchoi... ORPHA:3044
Amyotrophic Lateral Sclerosis
Xerostomia, Amyotrophic lateral sclerosis, Cachexia, Motor neuron atrophy, Dysphagia, Tongue atrophy ORPHA:803
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Weight loss, Abnormal testis morphology, Abnormal lung morphology, Abnormality of the p... ORPHA:54251
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Entropion, Microphth... OMIM:278730
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Turnpenny-Fry Syndrome
Aortic regurgitation, Carotid artery tortuosity, Mitral valve prolapse, Tricuspid valve prolapse,... OMIM:618371
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
3Q29 Microduplication Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Obesity, Microphthalmia, Sclerocornea, Iris c... ORPHA:251038
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Congenital diaphragmatic hernia, Truncal obesity, Short stature, Sparse hair ORPHA:284180
Spinocerebellar Ataxia Type 34
Dry skin, Urticaria ORPHA:1955
Zellweger Syndrome
Cataract, Failure to thrive, Polymicrogyria, Upslanted palpebral fissure, Epicanthus, Posterior e... ORPHA:912
Aarskog-Scott Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Failure to thrive, Testicular atrophy, Bilateral cr... OMIM:305400
Immunodeficiency 81
Petechiae OMIM:619374
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Open bite, Ankyloglossia, Epicanthus, Alopecia, Disproportionate sh... ORPHA:1507
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbili... OMIM:301068
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Coarctation of aorta, Splenomegaly, Ventricular septal defect OMIM:620210
Chronic Graft Versus Host Disease
Erythema, Diarrhea, Xerostomia, Poor wound healing, Pulmonary infiltrates, Weight loss, Bronchiol... ORPHA:99921
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Ichthyosis Prematurity Syndrome
Follicular hyperkeratosis, Hyperpigmentation of the skin, Alopecia of scalp OMIM:608649
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Sparse eyebrow, Postnatal growth retardation, Nail dystrophy, Patent foramen ovale, O... OMIM:619127
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Respiratory failure, Pancreatitis, Hepatic steatosis OMIM:619386
Rauch-Steindl Syndrome
Highly arched eyebrow, Failure to thrive, Long philtrum, Bilateral renal hypoplasia, Exocrine pan... OMIM:619695
Aspergillosis
Pneumonia, Hepatitis, Pleural effusion, Abnormal esophagus morphology, Hypersensitivity pneumonit... ORPHA:1163
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Diarrhea, Peptic ulcer, Pallor, Splenomegaly, Syncope, Weight loss, Hepatomegaly, Na... ORPHA:98849
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Osteootohepatoenteric Syndrome
Weight loss, Failure to thrive, Dehydration OMIM:619377
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Moebius Syndrome
Bifid uvula, Abnormality of the dentition, Abnormality of the nail, Respiratory distress, Decreas... OMIM:157900
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Upslanted palpebral fissure, Epicanthus ORPHA:401777
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Branchial cyst, Epicanthus, Cleft maxillary alveolar ridge, Dysphagi... ORPHA:508488
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyebrow, Umbilical hernia, Megalocornea, Breast hypoplasia, Sparse ... OMIM:230740
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Downslanted palpebral fissures, Thin eyebrow, Upper eyelid edema, Open mouth,... OMIM:617804
Hurler-Scheie Syndrome
Generalized hirsutism, Corneal opacity ORPHA:93476
Kleefstra Syndrome
Hearing impairment, Supernumerary nipple, Cryptorchidism, Arrhythmia, Everted lower lip vermilion... ORPHA:261494
Alveolar Echinococcosis
Pulmonary cyst, Vomiting, Biliary cirrhosis, Budd-Chiari syndrome, Abnormal mesentery morphology,... ORPHA:284
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Purpura, Pulmonary embolism, Skin ulcer ORPHA:743
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Smith-Lemli-Opitz Syndrome
Cutis marmorata, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Epicanthus, Cuta... ORPHA:818
Restrictive Dermopathy 2
Hypoplastic facial bones, Gastroesophageal reflux, Microretrognathia, Fetal distress, Respiratory... OMIM:619793
Kasabach-Merritt Phenomenon
Hypopnea, Hypertrichosis, Respiratory distress, Petechiae, Prolonged prothrombin time, Hepatic he... ORPHA:2330
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Alpha-1-Antitrypsin Deficiency
Hepatitis, Bronchitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Bronchiectasis,... ORPHA:60
Fg Syndrome Type 1
Hypospadias, Abnormal large intestine morphology, Dental crowding, Gastroesophageal reflux, Long ... ORPHA:93932
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Alopecia, Hepatosplenomegaly, Splenomegaly OMIM:615559
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Coarse metaphyseal trabecularization, Osteomalacia, Short stature, Bone cyst, Osteolysi... ORPHA:93160
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair OMIM:119580
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Vici Syndrome
Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Postnatal growth retardation, Myopathy... OMIM:242840
Lacrimoauriculodentodigital Syndrome
Low-set ears, Carious teeth, Xerostomia, Micrognathia, Cryptorchidism, Limbal stem cell deficienc... ORPHA:2363
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Sparse eyebrow, Neonatal respiratory distress, Fine hair, Macrotia, Respiratory distres... OMIM:614748
Localized Junctional Epidermolysis Bullosa
Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary... ORPHA:251393
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm, Mitral valve prolapse OMIM:604308
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Abnormal bleeding, Hepatitis, Cardiomyopathy, Fetal distress, Respira... ORPHA:292
Large Congenital Melanocytic Nevus
Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit... ORPHA:626
Yellow Nail Syndrome
Biliary tract neoplasm, Yellow nails, Toenail dysplasia, Generalized abnormality of skin, Abnorma... ORPHA:662
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... OMIM:300244
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperuricemia, Hyponatremia, Proteinur... OMIM:613845
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Bulbous nose, Hypoplasia of the maxilla, Thick eyebrow, Synophrys OMIM:618737
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin OMIM:612952
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Respiratory distress, Genera... ORPHA:367
Ullrich Congenital Muscular Dystrophy
Decreased fetal movement, Micrognathia, Respiratory failure, Abnormal palate morphology ORPHA:75840
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hypertrichosis, Hirsutism, Hernia, Synophrys OMIM:252930
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Rin2 Syndrome
Bruising susceptibility, Abnormal lip morphology, Umbilical hernia, Long philtrum, Downslanted pa... ORPHA:217335
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Postnatal growth retardation, Hydronephr... ORPHA:531151
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Dry skin, Micrognathia, Cryptorchidism, Sparse eyelashes, Breech presentation, Spar... OMIM:210710
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Alopecia totalis, Intrauterine growth retardation, Ventricular septa... OMIM:618775
Robinow Syndrome, Autosomal Dominant 3
Low-set ears, Hearing impairment, Micrognathia, Cryptorchidism, Epicanthus, Short nose, Cleft lip... OMIM:616894
Aarskog-Scott Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, High anterior hairline, Delayed eruption of teeth, ... ORPHA:915
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Ear-Patella-Short Stature Syndrome
Low-set ears, Hearing impairment, Atresia of the external auditory canal, Micrognathia, Narrow mo... ORPHA:2554
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Chorioretinal coloboma, Downslanted palpebral fissures, Periventricular no... OMIM:619135
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Intrauterine growth retardation, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Peroxisome Biogenesis Disorder 14B
Dry skin, Hydrocele testis, Developmental cataract, Progressive hearing impairment OMIM:614920
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
Kinsship Syndrome
Short palpebral fissure, Renal hypoplasia, Gastroesophageal reflux, Downturned corners of mouth, ... OMIM:619297
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... ORPHA:477817
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Nail dystrophy, Oral mucosal blisters, Urethral stricture, Anonychia, Gastrointest... ORPHA:79409
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Low-set ears, Recurrent otitis media, Recurrent sinusitis, Raynaud phenomenon, Recurre... OMIM:607944
Menkes Disease
Sparse hair, Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Dry skin, Intr... ORPHA:565
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Dental crowding, Cupped ear, Cleft... OMIM:602483
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Erythema, Angioedema, Respiratory distress, Tongue edema, Abnormal capillary physiology, Palpebra... ORPHA:100057
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Vomiting, Dilated cardiomyopathy, Respiratory insufficiency, Respiratory distress, Hypertrophic c... OMIM:614299
Focal Myositis
Weight loss ORPHA:48918
Lymphedema-Distichiasis Syndrome
Yellow nails, Recurrent corneal erosions, Distichiasis, Ptosis, Microphthalmia, Ectropion, Conjun... OMIM:153400
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Low-set ears, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Gastroesophageal reflux, Hearing impairment, Congestive heart failure, Respiratory distress, Recu... OMIM:616482
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Abnormal heart morphology, Abnormal pulmonary valve ... ORPHA:268261
Immunodeficiency 27A
Pneumonia, Diarrhea, Hepatosplenomegaly, Splenomegaly, Pulmonary infiltrates, Weight loss OMIM:209950
Immunodeficiency 7
Failure to thrive, Hypereosinophilia, Splenomegaly, Patchy alopecia, Hepatomegaly OMIM:615387
Livedoid Vasculopathy
Poor wound healing, Skin ulcer, Macular purpura, Cutis marmorata, Ischemic stroke, Ecchymosis, Te... ORPHA:542643
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Natal tooth, Alopecia totalis, Neonatal death, Anonychia, Absent fingernail OMIM:609638
Duodenal Atresia
Annular pancreas, Abnormality of the pulmonary artery, Polyhydramnios, Duodenal atresia, Abnormal... ORPHA:1203
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Low-set ears, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Long philtrum, Exo... OMIM:618500
Late-Onset Isolated Acth Deficiency
Hypotension, Diarrhea, Pituitary adenoma, Hepatitis, Failure to thrive, Dry skin, Constipation, A... ORPHA:199299
Attenuated Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Bruising susceptibility, Skin ulcer, Ocular albinism, Recurrent res... ORPHA:352723
Complement Component 2 Deficiency
Purpura OMIM:217000
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Nail dystrophy, Hypodontia, Enamel hypoplasia, Anonychia, Short statur... OMIM:616029
Beta-Ketothiolase Deficiency
Weight loss, Dehydration, Edema ORPHA:134
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Failure to thrive, Brittle hair, Sparse scalp hair OMIM:256500
Intellectual Disability, Buenos-Aires Type
Fine hair, Downslanted palpebral fissures, Abnormal fingernail morphology, Umbilical hernia, Hype... ORPHA:3079
Whipple Disease
Gastrointestinal hemorrhage, Splenomegaly, Hyponatremia, Cachexia, Hydrocephalus, Hepatomegaly, P... ORPHA:3452
Hypomandibular Faciocranial Dysostosis
Low-set ears, Bifid uvula, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Downslanted pal... ORPHA:1790
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Downslanted ... OMIM:610536
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Low-set ears, Cholestasis, Hepatosplenomegaly, Micrognathia, Frontal upsweep of hair, Congenital ... OMIM:266920
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy OMIM:614300
Nephroblastoma
Aniridia, Neoplasm of the liver, Weight loss, Hypertension, Neoplasm of the lung ORPHA:654
Solar Urticaria
Dermatographic urticaria, Angioedema, Abnormal tongue morphology, Abnormal lip morphology, Syncop... ORPHA:97230
Jaberi-Elahi Syndrome
Cataract, Sparse eyebrow, Failure to thrive, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:617988
Eosinophilic Fasciitis
Muscular edema, Weight loss, Edema ORPHA:3165
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Failure to thrive, Emphysema, Hepatosplenomegaly, Aplasia of the thymus, Rec... OMIM:242700
Listeriosis
Pneumonia, Diarrhea, Vomiting, Arteritis, Liver abscess, Congestive heart failure, Respiratory di... ORPHA:533
Mody
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Obesit... ORPHA:552
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Wide nasal bridge, Low-set ears, Long philtrum, Dry skin, Upslanted palpebral f... OMIM:619306
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Ridged nail, Nail dystrophy, Nail dysplasia OMIM:246560
Imerslund-Gräsbeck Syndrome
Vomiting, Abnormal bleeding, Failure to thrive, Pallor, Angular cheilitis, Constipation, Weight l... ORPHA:35858
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short stature, Hypoplasia of the maxilla, Convex nasal ridge OMIM:156510
Bardet-Biedl Syndrome 12
Hypogonadism, Vaginal atresia, Obesity, Hydrometrocolpos OMIM:615989
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia OMIM:614702
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Dysphagia, Elevated circulating creatine kinase concentration OMIM:158900
Kagami-Ogata Syndrome
Pursed lips, Respiratory failure requiring assisted ventilation, Large placenta, Micrognathia, Po... ORPHA:254519
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Diarrhea, Cholestasis, Hepatosplenomegaly, Oral ulcer, Hepatomegaly, Jaundice, Purpura,... OMIM:620376
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre... OMIM:617056
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Flexion contracture, Sparse hair, Failure to thrive OMIM:620001
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia, Dry skin, Sensorineural hearing impairment, Parakeratosis, Hyperkeratosis OMIM:618527
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Hypoplasia of the maxilla, Hypoplasia ... ORPHA:560
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly, Downslanted palpebral fissures OMIM:614526
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Abnormality of the parathyroid gland, Atresia of the external auditory canal, Micro... ORPHA:3429
Cinca Syndrome
Hearing impairment, Urticaria, Splenomegaly, Sensorineural hearing impairment, Hepatomegaly, Purp... ORPHA:1451
Nanophthalmos 4
Microphthalmia OMIM:615972
Lichen Planopilaris
Abnormal fingernail morphology, Alopecia, Onycholysis ORPHA:525
Plummer-Vinson Syndrome
Narrow mouth, Decreased circulating ferritin concentration, Intra-oral hyperpigmentation, Esophag... ORPHA:54028
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the dentition, Failure to thrive, Cardiomyopathy, Abnormality of the liver, Prolon... ORPHA:88618
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Low anterior hairline, Hypodontia, Short statur... ORPHA:3201
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Congenital Fiber-Type Disproportion Myopathy
Dental crowding, Failure to thrive, Aspiration pneumonia, Micrognathia, Respiratory insufficiency... ORPHA:2020
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Hearing impairment, Failure to thrive, Respiratory insufficiency, ... OMIM:245400
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Neu-Laxova Syndrome
Abnormal hair morphology, Micrognathia, Abnormal nasolacrimal system morphology, Everted lower li... ORPHA:2671
Mend Syndrome
Aortic valve stenosis OMIM:300960
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
9q subtelomeric deletion syndrome
Protruding tongue, Synophrys DECIPHER:52
Kawasaki Disease
Diarrhea, Arrhythmia, Recurrent pharyngitis, Jaundice, Vasculitis, Glossitis, Cheilitis, Abnormal... ORPHA:2331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Polymicrogyria, Type II lissencephaly, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri... OMIM:620135
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Subdural hemorrhage, Micrognathia, Decreased fetal movement, Central apnea, Respiratory insuffici... OMIM:618291
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Sparse eyebrow, Small nail, Cleft upper lip, Supernumerary nipple, Widely spaced te... OMIM:612530
Fryns-Smeets-Thiry Syndrome
Downturned corners of mouth, Thick lower lip vermilion, Cachexia, Everted lower lip vermilion, Sh... ORPHA:2058
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Obesity, Hypogonadism, Hirsutism, Micropenis... OMIM:209900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Low-set ears, Hypotension, Vomiting, Failure to thrive, Pallor, Smooth philtrum, Pulmonary arteri... OMIM:277400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, ... OMIM:220111
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Highly arched eyebrow, Trichiasis, Cataract, Keloids, Downslanted palpebral fissures, Corneal sca... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Highly arched eyebrow, Trichiasis, Cataract, Keloids, Downslanted palpebral fissures, Corneal sca... ORPHA:353277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Microphthalmia OMIM:614830
Spinocerebellar Ataxia-Dysmorphism Syndrome
Ptosis, Epicanthus, Coarse hair ORPHA:1185
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Dysphagia, Respiratory failure OMIM:613435
Microphthalmia With Limb Anomalies
Short palpebral fissure, Failure to thrive, Downslanted palpebral fissures, Anophthalmia, Blephar... OMIM:206920
Felty Syndrome
Recurrent pneumonia, Splenomegaly, Sinusitis, Weight loss, Recurrent pharyngitis, Hepatomegaly, R... ORPHA:47612
Dyskeratosis Congenita, X-Linked
Carious teeth, Premature graying of hair, Sparse eyelashes, Cirrhosis, Anal mucosal leukoplakia, ... OMIM:305000
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive... OMIM:225060
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Pallor, Splenomegaly, Exertional dyspnea, Tachycardia ORPHA:90037
Chikungunya
Gingival bleeding, Epistaxis, Erythema, Vomiting, Diarrhea, Abnormal bleeding, Petechiae, Skin ve... ORPHA:324625
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Bifid uvula, Sparse eyebrow, Downslanted palpebral fissures, Respiratory distress, Micrognathia, ... OMIM:606164
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Cataract, Low-set ears, Delayed eruption of teeth, Failure to thrive, Thick up... OMIM:247200
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Atrial septal defect, Flexion contracture, Paten... OMIM:617140
Congenital Rubella Syndrome
Microphthalmia, Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Hepatomegaly, ... OMIM:619534
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Alopecia, Ectopic ossification in muscle tissue, Ectopic... OMIM:135100
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebr... OMIM:619656
3Mc Syndrome 3
Highly arched eyebrow, Ptosis, Blepharophimosis, Corneal opacity, Epicanthus inversus OMIM:248340
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism ORPHA:745
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Unilateral narrow palpebral fissure, Ectopia pupillae, Astigmatism, Scarring alopecia o... OMIM:618727
Pancreatic Agenesis 1
Pancreatic hypoplasia, Failure to thrive, Exocrine pancreatic insufficiency, Intrauterine growth ... OMIM:260370
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Bruising susceptibility, Intracranial... ORPHA:324636
Hydroxykynureninuria
Hypotension, Dry skin, Congenital sensorineural hearing impairment, Tachycardia, Stomatitis ORPHA:79155
Complete Androgen Insensitivity Syndrome
Sparse pubic hair, Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Pr... ORPHA:99429
Cerebrofaciothoracic Dysplasia
Coarse hair, Downslanted palpebral fissures, Thick eyebrow, Low posterior hairline, Epicanthus, A... ORPHA:1394
Cofs Syndrome
Cataract, Microphthalmia ORPHA:1466
Psoriasis 14, Pustular
Furrowed tongue, Nail dystrophy, Geographic tongue, Elevated circulating C-reactive protein conce... OMIM:614204
Orofaciodigital Syndrome Type 6
Highly arched eyebrow, Cerebellar vermis hypoplasia, Midline notch of upper alveolar ridge, Failu... ORPHA:2754
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Growt... ORPHA:264580
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Gastroesophageal reflux, Xerostomia, Skin ulcer, Carious teeth, Congestive h... ORPHA:220393
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia involving the nose ORPHA:3301
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Natal tooth, Atresia of the external auditory canal, Anteriorly place... OMIM:123790
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Poems Syndrome
Increased circulating prolactin concentration, Hypertrichosis, Leukonychia, Pleural effusion, Spl... ORPHA:2905
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Failure to thrive, Respiratory distress, Hypertrophic cardiomyopathy, Sensorineural hearing impai... OMIM:220110
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... OMIM:615009
Acrofrontofacionasal Dysostosis 1
S-shaped palpebral fissures, Small nail, Long eyelashes, Iris atrophy, Ptosis, Microphthalmia, Lo... OMIM:201180
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Small nail, Hypoplasia of the pons, Epicanthus, Blepharophimosis, High palate, Hypospadias, Duode... OMIM:616975
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Hypoplasia of the maxilla, Bilateral choanal atresia, Supernumerary nipple, Sp... OMIM:106260
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Horizontal eyebrow, Bilateral microphthalmos, Frontal upsweep of hair, Upslanted palpebral fissur... ORPHA:369891
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Low-set ears, Highly arched eyebrow, Sparse eyebrow, High anterior hairline, Gastroesophageal ref... OMIM:600987
Joubert Syndrome 1
Nephropathy, Highly arched eyebrow, Hepatic fibrosis, Cerebellar vermis hypoplasia, Dysgenesis of... OMIM:213300
Keipert Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Aplastic/hypoplastic t... ORPHA:2662
Adult-Onset Still Disease
Erythema, Hepatitis, Interstitial pneumonitis, Splenomegaly, Hepatomegaly, Weight loss, Cartilage... ORPHA:829
Wolcott-Rallison Syndrome
Ascites, Dehydration, Decreased body weight ORPHA:1667
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Hypoplasia of the maxilla, Prominent nasal bridge, Mandibular prognathia OMIM:300676
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Short 3rd metacarpal, Short 4th toe, Short thumb, 2-4 toe cutaneous syndactyly, Short 5... OMIM:618569
Lissencephaly Syndrome, Norman-Roberts Type
Wide nasal bridge, Low-set ears, Microretrognathia, Respiratory distress, Intrauterine growth ret... ORPHA:89844
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy... ORPHA:98855
Renal Hypoplasia
Small for gestational age, Dehydration ORPHA:93101
Congenital Myopathy 17
Low-set ears, Dental malocclusion, Long philtrum, Downslanted palpebral fissures, Respiratory ins... OMIM:618975
Alg1-Cdg
Protein-losing enteropathy, Cardiomyopathy, Abnormality of the gastrointestinal tract, Chronic di... ORPHA:79327
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Micrognathia, Nail dystrophy, Delayed puberty, Convex nasal r... ORPHA:90154
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Crossed fused renal ectopia, Cleft soft pal... ORPHA:2919
Raine Syndrome
Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, High pa... OMIM:259775
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Carious teeth, Coarse hair, Failure to thrive, Long philtrum, Downslanted palpebral fissures, Abn... ORPHA:357074
Acro-Renal-Mandibular Syndrome
Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Low-s... ORPHA:958
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Developmental cataract, Brittle hair OMIM:618810
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Generalized Eruptive Keratoacanthoma
Ectropion, Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Dysphagia ORPHA:216873
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Myopathy, Hypoplastic fingernail ORPHA:257
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Glycogen Storage Disease Iv
Hepatic failure, Failure to thrive, Hepatosplenomegaly, Abnormal circulating creatine kinase conc... OMIM:232500
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Hearing impairment, Abnormal earlobe morphology, Large placenta, Crypto... ORPHA:116
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Abnormal cerebellum morphology, Cachexia, Urinary incontinence, Dy... ORPHA:300605
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Downslanted palpebral fissures, Bilateral ptosis, Upslanted palpebral fiss... ORPHA:404440
Alzahrani-Kuwahara Syndrome
Low-set ears, Cataract, Hearing impairment, Long philtrum, Dry skin, Micrognathia, Astigmatism, P... OMIM:619268
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para... OMIM:300918
Hypoglossia With Situs Inversus
Low-set ears, Microglossia, Polysplenia, Respiratory distress, Micrognathia, Narrow mouth, Hypodo... OMIM:612776
Microsporidiosis
Pneumonia, Nephritis, Bronchiolitis, Bronchitis, Hepatitis, Urethritis, Abnormality of the spleen... ORPHA:2552
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Downslanted palpebral fissures, Epicanthus, Posterior e... ORPHA:96125
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Hepatosplenomegaly, Mitral regurgitation, Myopathy, Facial hypotonia, Macro... ORPHA:309282
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Congenital hepatic fibrosis, Renal cyst, Ptosis, Blepharophimosis, ... ORPHA:2031
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Nipah Virus Disease
Respiratory distress, Hypotension, Recurrent pharyngitis ORPHA:99825
Buerger Disease
Vasculitis, Arterial occlusion, Skin ulcer, Intermittent claudication, Livedo reticularis, Raynau... ORPHA:36258
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Alopecia, Proximal muscle weakness in lower limbs ORPHA:453533
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair, Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Type II lissencephaly, Coloboma, Microphthalmia, Agyria, Lissen... OMIM:615249
Otopalatodigital Syndrome Type 2
Low-set ears, Cataract, Hearing impairment, Failure to thrive, Downslanted palpebral fissures, My... ORPHA:90652
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Congestive heart failure, Dilatation of the cerebral artery, Ventricular se... OMIM:619475
Waardenburg Syndrome, Type 1
Wide nasal bridge, Underdeveloped nasal alae, Premature graying of hair, Thick eyebrow, White for... OMIM:193500
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Diarrhea, Xerostomia, Oral-pharyngeal dysphagia, Corneal erosion, Intestinal perforation, Pneumon... ORPHA:95455
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... ORPHA:466791
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Thick eyebrow, Camptodactyly of toe, Truncal obesity, Short stature, Spa... ORPHA:127
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Hirsutism, Aplasia of the uterus, Primary a... OMIM:158330
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Syncope, Orthostatic hypotension, Bruising susceptibility OMIM:143850
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Sensorineural hearing impairment ORPHA:3225
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Hearing impairment, Respiratory distress, Otitis media, Sinusitis, Absent inner ... OMIM:606763
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Truncal obesity, Supernumerary nipple ORPHA:3224
Alagille Syndrome 1
Depressed nasal bridge, Failure to thrive, Bulbous nose, Concave nasal ridge, Long nose OMIM:118450
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Microcornea, Bruising susceptibility, Arterial rupture, Sensorineural hearing impairment, Follicu... ORPHA:300179
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Dyst... ORPHA:1452
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Premature rupture of membranes, Keratoconus, Microcornea, Recurrent pneumonia, Downslanted palpeb... OMIM:225400
Frontorhiny
Cataract, Epicanthus, Ptosis, Microphthalmia, Iris coloboma, Widow's peak ORPHA:391474
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Pallor, Splenomegaly, Jaundice, Exertional dyspnea, Tachycardia ORPHA:90033
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Scaling skin, Ectropion, Hyper... OMIM:612281
Cornelia De Lange Syndrome 1
Low-set ears, Cutis marmorata, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Lo... OMIM:122470
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Failure to thrive, Intrauterine growth retardation, Protruding tongue, Hypoplastic t... OMIM:612938
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Opitz Gbbb Syndrome
Natal tooth, Ankyloglossia, Agenesis of corpus callosum, Anal atresia, High palate, Hypospadias, ... ORPHA:2745
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Multiple Pterygium Syndrome, X-Linked
Low-set ears, Cleft upper lip, Intrauterine growth retardation, Micrognathia, Multiple pterygia, ... OMIM:312150
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence, Hypotriglyceridemia, Downslanted palpebral fissures, Decreased HDL choleste... OMIM:618885
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyebrow, Failure to thrive, Downslanted palpebral fissures, Sparse eyelashes, Pa... OMIM:302960
Tetanus
Respiratory distress, Hypertension, Tachypnea, Trismus, Bradycardia, Tachycardia, Dysphagia, Bowe... ORPHA:3299
Marshall-Smith Syndrome
Failure to thrive, Gingival overgrowth, Open mouth, Protruding tongue, Generalized hirsutism, Cer... ORPHA:561
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Failure to thrive, Intrauterine growth retardation, Decreased fetal mo... OMIM:604320
Transaldolase Deficiency
Hepatosplenomegaly, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Telangiectasia... OMIM:606003
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ventricular septal defect, Overriding aorta, Pulmonary arte... OMIM:617021
Pelvis-Shoulder Dysplasia
Short palpebral fissure, Microglossia, Hydranencephaly, Facial hirsutism, Mesomelic/rhizomelic li... ORPHA:2839
Neonatal Inflammatory Skin And Bowel Disease
Horizontal eyebrow, Chronic monilial nail infection, Left ventricular hypertrophy, Slow-growing s... ORPHA:294023
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Obesity ORPHA:88643
Osteogenesis Imperfecta
Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Mitral valve ... ORPHA:666
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Alternating Hemiplegia Of Childhood
Mydriasis, Diarrhea, Vomiting, Downturned corners of mouth, Oral-pharyngeal dysphagia, Cardiomyop... ORPHA:2131
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Harlequin Ichthyosis
Dehydration ORPHA:457
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Hypoplasia of the maxilla, Depressed na... OMIM:608156
Adams-Oliver Syndrome 5
Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri... OMIM:616028
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Splenomegal... ORPHA:2729
Pitt-Hopkins Syndrome
Tooth malposition, Abnormal helix morphology, Supernumerary nipple, Esophagitis, Cryptorchidism, ... ORPHA:2896
Cranioectodermal Dysplasia 2
Low-set ears, Cholestasis, Micrognathia, Sparse eyelashes, Epicanthus, Ectodermal dysplasia, Ever... OMIM:613610
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Cataract, Alopecia, Opacification of the corneal stroma ORPHA:3453
Congenital Total Pulmonary Venous Return Anomaly
Mitral regurgitation, Hepatomegaly, Tachycardia, Mixed total anomalous pulmonary venous connectio... ORPHA:99125
Orofaciodigital Syndrome Type 4
Low-set ears, Micrognathia, Perineal fistula, Rectal atresia, Anal atresia, Rectovaginal fistula,... ORPHA:2753
Rett Syndrome
Short stature, Abnormality of the dentition, Cachexia, Gastroesophageal reflux OMIM:312750
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Long penis, Cleft upper lip, Downslanted palpebral fissures, Horse... OMIM:268300
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Ptosis, Lester's sign, Spina bifida, Antecubital pterygium, M... OMIM:161200
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Hypertensive crisis, Diarrhea, Abnormal tongue morphology, Ganglioneu... ORPHA:653
Joubert Syndrome 21
Occipital encephalocele, Apnea, Encephalocele, Splenomegaly, Chronic sinusitis, Sensorineural hea... OMIM:615636
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Igg4-Related Kidney Disease
Arteritis, Retroperitoneal fibrosis, Abnormal mesentery morphology, Sialadenitis, Interstitial pn... ORPHA:449395
Spinocerebellar Ataxia 36
Tongue fasciculations, Cerebellar atrophy, Ptosis, Dysphagia, Tongue atrophy OMIM:614153
Apert Syndrome
Choanal atresia, Depressed nasal bridge, Dental malocclusion, Delayed eruption of teeth, Rhizomel... OMIM:101200
Coffin-Siris Syndrome
Sparse scalp hair, Small nail, Aspiration pneumonia, Postnatal growth retardation, Hypoplastic fi... ORPHA:1465
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Hypertension, Lung adenocarcinoma OMIM:618913
Galloway-Mowat Syndrome 9
Hiatus hernia, Coarse hair, Almond-shaped palpebral fissure OMIM:619603
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Fine hair, Downslanted palpebral fissures, Long eyelashes, Obesity, Upslanted palpebral fissure, ... OMIM:620250
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Downslanted palpebral fissures, Thick lower lip vermilion, Obes... OMIM:300602
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Alopecia, Hepatosplenomegaly, Failure to thrive ORPHA:169154
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Fryns Syndrome
Micrognathia, Cryptorchidism, Anal atresia, High palate, Non-midline cleft of the upper lip, Duod... ORPHA:2059
Incontinentia Pigmenti
Cataract, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Brea... OMIM:308300
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Epicanthus, Cirrhosis, Hepatomegaly, Holoprosencephaly, Hypospadias, Gastroeso... OMIM:270400
Waardenburg Syndrome Type 1
Hearing impairment, White hair, Premature graying of hair, Abnormal hair morphology, White forelo... ORPHA:894
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Polymicrogyria, Type II lissencephaly, Megalocornea, Colob... ORPHA:370959
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Osteosarcoma
Weight loss, Joint swelling ORPHA:668
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Micrognathia, Thic... OMIM:216550
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Tuberous Sclerosis Complex
Pituitary adenoma, Generalized abnormality of skin, Respiratory distress, Ungual fibroma, Pheochr... ORPHA:805
Non-Functioning Paraganglioma
Conductive hearing impairment, Sinus tachycardia, Congestive heart failure, Positive regitine blo... ORPHA:94080
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Irregular menstruation, Alopecia, Clitoral hypertrophy, Long penis, Ambiguous... ORPHA:90795
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Facial telangiectasia, G... OMIM:600376
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Short stature, Alopecia OMIM:620651
Celiac Disease, Susceptibility To, 1
Alopecia, Rickets, Failure to thrive, Postnatal growth retardation, Weight loss, Delayed puberty,... OMIM:212750
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Pancreatic Agenesis-Holoprosencephaly Syndrome
Low-set ears, Small for gestational age, Hypoplasia of the zygomatic bone, Intrauterine growth re... ORPHA:556955
Autosomal Dominant Robinow Syndrome
Onychogryposis of fingernail, Open bite, Anodontia, Epicanthus, Euryblepharon, Hypospadias, Episp... ORPHA:3107
Breath-Holding Spells
Pallor, Cyanosis OMIM:607578
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Sparse hair, Small for gestational age OMIM:618253
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Low-set ears, Tooth malposition, Hearing impairment, Curly hair, High palate, Anal atresia, Catar... ORPHA:480880
Grfoma
Diarrhea, Increased circulating prolactin concentration, Intestinal obstruction, Weight loss, Ele... ORPHA:97261
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Dehydration OMIM:251110
Medullary Thyroid Carcinoma
Diarrhea, Pheochromocytoma, Abnormal liver parenchyma morphology, Weight loss, Nodular goiter, Dy... ORPHA:1332
Distal Deletion 12Q
Small nail, Micropenis, Polycystic kidney dysplasia, Ectopic kidney, Duodenal atresia, High, narr... ORPHA:96149
Ehlers-Danlos Syndrome, Classic-Like, 2
Poor wound healing, Bruising susceptibility, Umbilical hernia, Bilateral ptosis, Thin eyebrow, Mi... OMIM:618000
Acrocallosal Syndrome
Everted upper lip vermilion, Postnatal growth retardation, Narrow mouth, Open mouth, Protruding t... OMIM:200990
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Stage... ORPHA:329918
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Supraventricular ... ORPHA:98863
Oculodentodigital Dysplasia
Cataract, Microcornea, Dry hair, Short palpebral fissure, Fine hair, Epicanthus, Blepharophimosis... OMIM:164200
Down Syndrome
Narrow mouth, Open mouth, Protruding tongue, Epicanthus, Celiac disease, Anal atresia, Sparse hai... ORPHA:870
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Peripheral pulmonary artery stenosis, Abnormality of frontal sinus, Downslan... ORPHA:436003
Axenfeld-Rieger Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Growth delay, Hypospadias ORPHA:782
Chromosome 6Pter-P24 Deletion Syndrome
Short palpebral fissure, Peters anomaly, Downslanted palpebral fissures, Telecanthus, Frontal ups... OMIM:612582
Curry-Jones Syndrome
Generalized hirsutism, Iris coloboma, Optic disc coloboma, Microphthalmia ORPHA:1553
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Generalized limb muscle atrophy, Failure to thrive in infancy, Intrauterine growth ret... OMIM:618891
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Palmoplantar keratoderma, Dystrophic toenail, Finger syndactyly, Sup... ORPHA:1071
Distal Deletion 19P
Alopecia, Thick eyebrow, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve atr... ORPHA:96129
Jansen-De Vries Syndrome
Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect OMIM:617450
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Purpura ORPHA:3204
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode OMIM:610992
Omenn Syndrome
Alopecia, Failure to thrive, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:603554
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Small for gestational age,... OMIM:615935
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Anhidrosis, Sparse hair OMIM:224900
Recombinant 8 Syndrome
Low-set ears, Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Hearing... ORPHA:96167
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Fine hair, Elbow flexion contracture, Inguinal hernia, Narrow palpebral fissure, Flexio... OMIM:614438
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Failure to thrive, Recurrent respiratory infections, Pallor, G... ORPHA:90045
Fucosidosis
Abnormality of the dentition, Hearing impairment, Vascular skin abnormality, Generalized hyperker... ORPHA:349
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Recurrent aphthous stomatitis, Aphthous ulcer, Intestinal ob... OMIM:266600
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Short uvula, Fine hair, Agenesis of permanent teeth, Short lingual frenulum, Mi... OMIM:614091
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Hypertrichosis OMIM:247410
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Peg-shaped maxillary lat... OMIM:150400
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Pulmonary arterial hypertension, Coarctation of aorta, Atrial septal de... OMIM:614857
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Lissencephaly, Microphthalmia ORPHA:1528
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Multiple muscular ventricular septal defects, Sparse hair, Growth delay, Pulmo... OMIM:615508
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Eisenmenger Syndrome
Elevated jugular venous pressure, Hepatomegaly, Right ventricular failure, Tricuspid regurgitatio... ORPHA:97214
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity ORPHA:2788
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect OMIM:615502
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Dental malocclusion, Micrognathia, Low posterior hairline, Delayed puberty, Micropenis,... ORPHA:2959
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:500159
Microlissencephaly-Micromelia Syndrome
Failure to thrive, Long philtrum, Respiratory distress, Polyhydramnios, Generalized hypertrichosi... ORPHA:50810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Dysphagia, Respiratory failure OMIM:606612
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose ORPHA:90653
Cutis Laxa, Autosomal Recessive, Type Iib
Gastroesophageal reflux, Bruising susceptibility, Long philtrum, Downslanted palpebral fissures, ... OMIM:612940
Developmental And Epileptic Encephalopathy 111
Low-set ears, Sinus tachycardia, Umbilical hernia, Long eyelashes, Thick eyebrow, Cryptorchidism,... OMIM:620504
Carey-Fineman-Ziter Syndrome 1
Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Epicanthus, High palate, Dysphagi... OMIM:254940
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Furrowed tongue, Truncal obesity ORPHA:2928
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Cardiomyopathy, Shoulder girdle muscle weakness, Myopathy, Increased intramyocellular l... ORPHA:98907
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa... OMIM:233450
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyebrow, High anterior hairline, Small nail, Sparse eyelashes, Ventricular septal defect, ... OMIM:250410
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Cong... OMIM:601186
Macrocephaly/Autism Syndrome
Epicanthus, Obesity, Coarse hair, Large for gestational age OMIM:605309
Dyskeratosis Congenita, Digenic
Alopecia, Failure to thrive, Intrauterine growth retardation, Nail dystrophy, Sparse eyelashes, S... OMIM:620040
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Lissencephaly, Microphthalmia OMIM:218670
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t... OMIM:277000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Microglossia, Tricuspid regurgitation, Hamartoma of tongue, Intestinal malrotat... OMIM:263520
Vitamin D-Dependent Rickets, Type 2A
Wide nasal bridge, Alopecia universalis, Carious teeth, Delayed eruption of teeth, Failure to thr... OMIM:277440
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Alopecia, Flexion contracture, Progressive clavicular acroosteolysis, Postnatal growt... OMIM:248370
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Anal stenosis, Gastroesophageal reflux, Cupped ear, Long philtrum, Large fleshy ear... OMIM:614080
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Low posterior hairline, Facial hypotonia, Sparse hair, Synophrys OMIM:619320
Relapsing Fever
Epistaxis, Hypotension, Vomiting, Diarrhea, Abnormal bleeding, Jaundice, Prolonged prothrombin ti... ORPHA:91547
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Hermansky-Pudlak Syndrome 4
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ocular albinism, Albinism, Pulmonary fibro... OMIM:614073
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Huntington Disease-Like 2
Weight loss OMIM:606438
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,... OMIM:263200
Isolated Atp Synthase Deficiency
Cataract, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Sensorineura... ORPHA:254913
Bickerstaff Brainstem Encephalitis
Pneumonia, Mydriasis, Respiratory tract infection, Recurrent gastroenteritis, Ptosis, Dyspnea, An... ORPHA:79138
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Congestive ... ORPHA:139507
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Bruising susceptibility, Petechiae, Ecchymosis, Purpura, Prolonged bleeding time OMIM:601399
Oculoectodermal Syndrome
Growth delay, Supernumerary nipple, Eyelid coloboma, Epicanthus, Limbal dermoid, Bladder exstrophy OMIM:600268
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Dehydration OMIM:251100
Garg-Mishra Progeroid Syndrome
Short stature, Postnatal growth retardation, Sparse hair, Small nail OMIM:620601
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Micrognathia, Polyhydramnios ORPHA:1423
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Pili torti, Fragile nails OMIM:261990
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Alopecia, Sparse eyebrow, Small nail, Retrognathia, Bilateral cryptorchidism, Bulbous nose, Large... ORPHA:544488
Meier-Gorlin Syndrome 3
Small scrotum, Sparse pubic hair, Hypoplasia of the maxilla, Microretrognathia, Failure to thrive... OMIM:613803
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... ORPHA:49041
Kapur-Toriello Syndrome
Failure to thrive, Retinal coloboma, Polymicrogyria, Microphthalmia, Pachygyria, Iris coloboma ORPHA:2328
Au-Kline Syndrome
Supernumerary nipple, Open mouth, Cryptorchidism, Sensorineural hearing impairment, Breech presen... OMIM:616580
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Abnormal cardiac septum morphology ORPHA:589821
Cutis Laxa, Autosomal Recessive, Type Iiia
Distal amyotrophy, Failure to thrive, Intrauterine growth retardation, Short stature, Sparse hair OMIM:219150
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Polymicrogyria, Failure to thrive in infancy, Decreased body weight, Bl... OMIM:610758
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Narrow mouth, Mitral regurgitation, Cryptorchidism, Epicanthus, Recurrent l... ORPHA:363611
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Keloids, Camptodactyly of finger, Corneal scarring, Dense posterio... OMIM:309000
Developmental And Epileptic Encephalopathy 80
Increased urine alpha-ketoglutarate concentration, Growth delay, Small nail, Long philtrum, Failu... OMIM:618580
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility OMIM:614200
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Distal Deletion 15Q
Low-set ears, Abnormality of the dentition, Hearing impairment, Failure to thrive, Small nail, In... ORPHA:1596
Curry-Jones Syndrome
High anterior hairline, Polymicrogyria, Hirsutism, Blepharophimosis, Microphthalmia, Iris coloboma OMIM:601707
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Long philtrum, Intestinal polyposis, Cachexia, Short stature... ORPHA:109
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Precocious puberty in females, Fair hair, Astigmatism, Ptosis ORPHA:72
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Skin ulcer, Abnormal pattern of respiration, Hypertrophic cardio... ORPHA:3287
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Depressed nasal bridge, Clitoral hypertrophy, Broad nasal tip, Narrow nose, Intrauterine growth r... OMIM:300707
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Intrauterine growth retardation, Micrognathia, Cyanotic episode, Th... ORPHA:284417
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Ptosis, Steatorrhea ORPHA:3217
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cataract, Failure to thrive, Respiratory distress, Sensorineural hearing impairment, Hypodontia, ... ORPHA:544503
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Necrotizing Enterocolitis
Hypotension, Diarrhea, Vomiting, Small for gestational age, Shock, Apnea, Cyanosis, Peritonitis, ... ORPHA:391673
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Myotonic Dystrophy 2
Posterior subcapsular cataract, Frontal balding, Palpitations, Iridescent posterior subcapsular c... OMIM:602668
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, Short palpebral fissure, Dental crowding, Long philtrum, Downslanted palpebral fis... OMIM:616078
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Limb hypertonia, Hirsutism OMIM:618087
Ane Syndrome
Alopecia, Multiple joint contractures, Delayed puberty, Short stature, Generalized amyotrophy ORPHA:157954
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Coarctation of aorta, Dextrocardia, Atrioventricular canal defect OMIM:618929
Mmep Syndrome
Microphthalmia ORPHA:3434
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Short nose, Low anterior hairline OMIM:218000
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Feingold Syndrome 1
Low-set ears, Hearing impairment, Micrognathia, Epicanthus, Everted lower lip vermilion, Blepharo... OMIM:164280
Infantile-Onset X-Linked Spinal Muscular Atrophy
Tongue fasciculations, Respiratory insufficiency, Respiratory distress, Cryptorchidism, High palate ORPHA:1145
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Ptosis, Microphtha... OMIM:614230
Classic Phenylketonuria
Cataract, Hypopigmentation of hair ORPHA:79254
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Long palpebral fissure, Cataract, Epicanthus, Microphthalmia ORPHA:163649
Arima Syndrome
Hepatic steatosis, Hematuria, Cirrhosis, Tubulointerstitial fibrosis, Hepatomegaly, Polycystic ki... OMIM:243910
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Noonan Syndrome
Abnormality of the spleen, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Low po... ORPHA:648
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Oligohydramnios, Micrognathia, Decreased fetal movement, Breech presentatio... ORPHA:1143
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Vomiting, Dilated cardiomyopathy, Respiratory arrest, Ventricular tachycardia, Hepatomegaly, Macr... OMIM:600649
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Breast aplasia, Abnormal eyebrow morphology, Absent eyelashes, Acroosteolysis of distal... ORPHA:90153
Leigh Syndrome
Cataract, Alopecia, Failure to thrive, Abnormal pattern of respiration, Hypertrichosis, Hypertrop... ORPHA:506
Constricting Bands, Congenital
Cleft upper lip, Abnormal lung lobation, Encephalocele, Eyelid coloboma, Bladder exstrophy, Cleft... OMIM:217100
Glycogen Storage Disease Ii
Sinus tachycardia, Shortened PR interval, Cardiomegaly, Subarachnoid hemorrhage, Right axis devia... OMIM:232300
Campomelic Dysplasia
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Narrow mouth, Irregular dentition,... OMIM:114290
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Hypoplastic toenails, Esop... OMIM:616589
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic... ORPHA:79284
Wolf-Hirschhorn Syndrome
Hearing impairment, Megalocornea, Micrognathia, Cryptorchidism, Low posterior hairline, Epicanthu... ORPHA:280
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choled... ORPHA:480520
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Mosaic Trisomy 9
Small nail, Abnormal lung lobation, Intestinal malrotation, Horseshoe kidney, Intrauterine growth... ORPHA:99776
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Ptosis, Dysphagia, Tongue... ORPHA:276198
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Abnormality of the dentition, Xerostomia, Dystrophic toenail, Oral leukoplakia... ORPHA:2907
Micro Syndrome
Cataract, Microcornea, Retinal coloboma, Generalized hirsutism, Microphthalmia, Pachygyria, Lisse... ORPHA:2510
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Gastroesophageal reflux, Hypopnea, Vomiting, Failure to thrive, Re... OMIM:618426
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Craniosynostosis, Sparse hair, Small for gestational age OMIM:613174
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Lobulated tongue, Cleft upper lip, Failure to thrive, Hamartoma of ... OMIM:277170
Cat Eye Syndrome
Low-set ears, Iris coloboma, Total anomalous pulmonary venous return, Anal stenosis, Meckel diver... OMIM:115470
Joubert Syndrome 14
Highly arched eyebrow, Downslanted palpebral fissures, Epicanthus, Ptosis, Coloboma, Microphthalmia OMIM:614424
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Hearing impairment, Cardiomyopathy, Polyhydramnios, Hepatic steatosis, Neo... OMIM:614922
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Vomiting, Gastroesophageal reflux, Failure to thrive, Respiratory distress, Hypertrophic cardiomy... ORPHA:17
Kearns-Sayre Syndrome
Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Portal Hypertension, Noncirrhotic, 1
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat... OMIM:617068
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Respiratory insufficiency, Jaundice, Pancreatic fibrosis, Polycystic liver dise... OMIM:208500
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Denta... OMIM:101800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory insufficiency, Respiratory distress, Respiratory insufficiency due to muscle weakness... OMIM:620375
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Low-set ears, Respiratory distress, Stillbirth, Polyhydramnios, Pulmonary hypoplasia OMIM:151210
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Intercrural pterygium, Micrognathia, Narrow mouth, Cryptorchidism, Epicanthus, High... OMIM:265000
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Hypertrichosis, Submucous cleft hard palate, Low posterior hairline, T... OMIM:619227
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Short stature, Patchy alopecia, Sparse hair OMIM:617763
Gaucher Disease Type 1
Splenic infarction, Gingival bleeding, Cholelithiasis, Abnormal bleeding, Bruising susceptibility... ORPHA:77259
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hearing impairment, Small nail, Micrognathia, Narrow mouth, Cirrhosis, Breech presentation, Hepat... OMIM:300868
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Sensorineural hearing impairment, Tachycardia, F... OMIM:221400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy, Hypoplastic toenails, Irregular respiration, H... OMIM:604377
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Cartilage-Hair Hypoplasia
Sparse eyebrow, Anal stenosis, Absent pubertal growth spurt, Fair hair, Fine hair, Neonatal short... OMIM:250250
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Neuroocular Syndrome 1
Hooded upper eyelid, Small nail, Hypoplasia of the fovea, Brittle hair, Microphthalmia, Lens colo... OMIM:619539
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Proteinuria, Increased blood urea nitrogen, Prolon... OMIM:274150
Trichorhinophalangeal Syndrome Type 1
Sparse eyebrow, Camptodactyly of finger, Leukonychia, Sparse eyelashes, Short stature, Sparse hai... ORPHA:77258
Proteus Syndrome
Low-set ears, Pulmonary cyst, Carious teeth, Chorioretinal coloboma, Open mouth, Generalized hirs... ORPHA:744
Adrenocortical Carcinoma
Hypertrichosis, Striae distensae, Palpitations, Lung adenocarcinoma, Increased body weight, Adren... ORPHA:1501
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Low-set ears, Carious teeth, Widely spaced teeth, Respiratory distress, Teleca... OMIM:617102
Trisomy 20P
Highly arched eyebrow, Coarse hair, Downslanted palpebral fissures, Camptodactyly of finger, Umbi... ORPHA:261318
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Dry skin, Prolonged neonatal jaundice, Pituitary h... ORPHA:99832
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Microphthalmia, Failure to thrive, Lacrimal duct atresia OMIM:300952
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Tooth agenesis, Breast aplasia, Open mouth, Death in infancy, M... ORPHA:570
Alfadhel Syndrome
Low-set ears, Highly arched eyebrow, Retrognathia, Smooth philtrum, Thin vermilion border, Short ... OMIM:620655
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Obesity, Wide mouth, Protruding tongue, Hypopigmentation of hair, Dysphagia ORPHA:411511
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Erythema, Diarrhea, Vomiting, Bruising susceptibility, Splenomegaly, Intestinal obstr... ORPHA:32960
Vascular Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the earlobes, Keratoconus, Carious teeth, Periodontitis, Narrow mouth, Cryp... ORPHA:286
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Hypophosphatemic rickets, Short stature, Growth delay OMIM:163200
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Aplasia/Hypoplasia affecting the eye ORPHA:1643
Juvenile Sialidosis Type 2
Hepatosplenomegaly, Gingival overgrowth, Protruding tongue, Generalized hypertrichosis, Hepatomeg... ORPHA:93399
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Respiratory distress, Abnormality of primary teeth, Telecanthus, Tented upper ... ORPHA:438216
Neurocardiofaciodigital Syndrome
Cataract, Sparse eyebrow, Failure to thrive, Narrow palpebral fissure, Sclerocornea, Sparse hair,... OMIM:619869
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Vomiting, Pulmonary embolism, Aspiration pneumonia, Hypertensio... ORPHA:94093
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Chronic sinusitis ORPHA:137914
Complex Regional Pain Syndrome
Erythema, Slow-growing nails, Abnormality of hair growth, Dry skin ORPHA:83452
Stickler Syndrome
Bifid uvula, Gastroesophageal reflux, Long philtrum, Cleft upper lip, Open bite, Abnormal dental ... ORPHA:828
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Sparse hair, Small nail OMIM:273400
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Failure to thrive, Respiratory distress, Cerebral ischemia, Hepatomegaly, Nausea ORPHA:927
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Weight loss, Goiter OMIM:188580
Revesz Syndrome
Ridged fingernail, Fine hair, Megalocornea, Nail dystrophy, Leukocoria, Sparse hair, Nail pits OMIM:268130
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Dehydration, Edema ORPHA:20
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Gastroesophageal reflux, Failure to thrive, Eosinophilic microabscess formation in the esophagus,... ORPHA:411696
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Depressed nasal bridge, Small nail, Retrognathia, Hypertri... OMIM:614527
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Cataract, Microphthalmia OMIM:618805
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Sparse eyebrow, Optic nerve hypoplasia, Long eyelashes, Low anterior hairline, Hirsutism, Broad e... ORPHA:495875
Peeling Skin Syndrome 6
Parakeratosis, Dry skin, Orthokeratosis, Scaling skin OMIM:618084
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Carious teeth, Oral leukoplakia, Premature graying of hair, Budd-Chiari syndrome, Ridge... OMIM:127550
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Short stature, Short nose ORPHA:79113
Congenital Disorder Of Deglycosylation 1
Low-set ears, Hepatic fibrosis, Oral-pharyngeal dysphagia, Respiratory distress, Open mouth, Decr... OMIM:615273
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short palpebral fissure, Microglossia, Exaggerated median tongue furrow, Small nail, Long philtru... OMIM:608670
Ulbright-Hodes Syndrome
Low-set ears, Respiratory distress, Micrognathia, Narrow mouth, Cryptorchidism, Oligohydramnios, ... ORPHA:3404
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Small for gestational age, Failure to thrive, Congestive heart failure, C... OMIM:609015
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Abnormal venous morphology, Decreased muscle mass, Congestive heart failure,... ORPHA:1900
Linear Nevus Sebaceus Syndrome
Alopecia, Telecanthus, Iris coloboma, Microphthalmia ORPHA:2612
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Corneal stromal edema, Shallow orbits, Corneal opacity, Microphthalmia, Sparse... OMIM:601812
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Mast Cell Sarcoma
Weight loss ORPHA:66661
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve, Foot joint contracture OMIM:619641
Vacterl/Vater Association
Occipital encephalocele, Low-set, posteriorly rotated ears, Anorectal anomaly, Intrauterine growt... ORPHA:887
Triosephosphate Isomerase Deficiency
Cholelithiasis, Failure to thrive, Congestive heart failure, Respiratory distress, Respiratory in... OMIM:615512
Double Outlet Left Ventricle
Failure to thrive, Cryptorchidism, Cyanosis, Abnormal right ventricular function, Pulmonary arter... ORPHA:3427
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Exertional dyspnea, Pallor ORPHA:90036
Leishmaniasis
Abnormal oral mucosa morphology, Abnormal bleeding, Skin ulcer, Pallor, Splenomegaly, Abnormal or... ORPHA:507
Auriculocondylar Syndrome 3
Ectropion, Bifid uvula, Glossoptosis OMIM:615706
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:613095
Menke-Hennekam Syndrome 1
Low-set ears, Everted upper lip vermilion, Hearing impairment, Micrognathia, Cryptorchidism, Chro... OMIM:618332
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Alopecia, Failure to thrive OMIM:304790
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormality of the tongue, Weight loss, Dysphagia, Aspiration pneumonia ORPHA:216866
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Weight loss, Dilat... ORPHA:171
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Muscular Dystrophy, Congenital, Lmna-Related
Failure to thrive, Paroxysmal atrial fibrillation, Decreased fetal movement, Paroxysmal atrial ta... OMIM:613205
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect OMIM:617751
Incontinentia Pigmenti
Alopecia, Ridged fingernail, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, ... ORPHA:464
Thrombocytopenia 10
Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneous, recurrent epistaxis, Menorrhagia OMIM:620484
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... ORPHA:90003
Ogden Syndrome
Downslanted palpebral fissures, Inguinal hernia, Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Decreased body weight, Microphthalmia, Lissencephaly, Optic nerve hypoplasia OMIM:614833
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Bilateral ptosis, Elevated circulating creatinine concentration,... ORPHA:230
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Retrognathia, Fetal distress, Long eyelashes, Apnea, Ptosis, Dysphagia, Respiratory... OMIM:617301
Developmental And Epileptic Encephalopathy 31B
Failure to thrive, Gingival overgrowth, Protruding tongue, Almond-shaped palpebral fissure, Agene... OMIM:620352
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson... OMIM:614947
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Vomiting, Gastroesophageal reflux, He... ORPHA:206436
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Micrognathia, Absent uvula, Intestin... OMIM:619708
Kapur-Toriello Syndrome
Cataract, Polymicrogyria, Retinal coloboma, Low posterior hairline, Microphthalmia, Pachygyria, I... OMIM:244300
Wiedemann-Steiner Syndrome
Short palpebral fissure, Gastroesophageal reflux, Rhizomelia, Failure to thrive, Long philtrum, P... ORPHA:319182
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Skeletal muscle atrophy, Sparse body hair, Abnormal muscle fiber morph... ORPHA:3068
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Synophrys OMIM:619428
Coffin-Lowry Syndrome
Hearing impairment, Cutis marmorata, Open mouth, Mitral regurgitation, Sensorineural hearing impa... OMIM:303600
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Retrognathia, Long philtrum, Downslanted palpebral fissures, Respiratory dis... ORPHA:99646
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Lens subluxation, Ectopia lentis, Brittle hair OMIM:236200
Blau Syndrome
Erythema, Cataract, Xerostomia, Skin ulcer, Keratitis, Dry skin, Large vessel vasculitis, Abnorma... ORPHA:90340
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ankyloglossia, Agenesis of corpus callosum, Chordee, Narrow palpebral fissure, Sparse hair, Hypos... OMIM:619841
Addison Disease
Hypotension, Diarrhea, Failure to thrive, Celiac disease, Dry skin, Sparse axillary hair, Constip... ORPHA:85138
Pontocerebellar Hypoplasia Type 1
Tongue fasciculations, Respiratory failure, Failure to thrive ORPHA:2254
2Q31.1 Microdeletion Syndrome
Short palpebral fissure, Optic disc coloboma, Downslanted palpebral fissures, Abnormal hair morph... ORPHA:251014
Keutel Syndrome
Wide nasal bridge, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Hearing imp... OMIM:245150
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Chronic constipation, Episodic hypertension, Episodic vomiting, R... OMIM:619483
Perry Syndrome
Weight loss ORPHA:178509
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Respiratory insufficiency, Cyanosis, Arrhythmia, Ventricular tachyca... ORPHA:159
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Wide mouth, Protruding tongue, Hypopigmentation of hair, Dysphagia ORPHA:98795
Muscular Dystrophy, Congenital, With Or Without Seizures
Progressive hearing impairment, Respiratory distress, Fetal distress, Decreased fetal movement, D... OMIM:620166
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia OMIM:169550
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Microglossia, Failure to thrive, Anteriorly placed anus, Intrauteri... OMIM:151050
Cousin Syndrome
Short palpebral fissure, Microglossia, Hydranencephaly, Disproportionate short stature, Rhizomeli... OMIM:260660
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,... ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,... ORPHA:453504
Mucopolysaccharidosis, Type Vii
Coarse hair, Thick eyebrow, Hirsutism, Epicanthus, Corneal opacity OMIM:253220
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Rectal prolapse, Hypo... ORPHA:90038
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Erythema, Skin ulcer, Angioedema, Vascular skin abnormal... ORPHA:761
Trichorhinophalangeal Syndrome, Type I
Cone-shaped epiphyses of the middle phalanges of the hand, Sparse lateral eyebrow, Fine hair, Cli... OMIM:190350
Microphthalmia, Syndromic 5
Cataract, Microcornea, Anophthalmia, Coloboma, Microphthalmia, Optic nerve hypoplasia OMIM:610125
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Tatton-Brown-Rahman Syndrome
Widely-spaced maxillary central incisors, Umbilical hernia, Tricuspid regurgitation, Obesity, Thi... ORPHA:404443
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Cerebellar cyst, Agenesis of corpus... OMIM:613091
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia, Hypocalcemia, Death in infancy, Short stature, Hydrocephalus, M... OMIM:602361
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Downslanted palpebral fissures, Microphthalmia, Iris atro... OMIM:601552
Pycnodysostosis
Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Disproportionate short-limb short ... ORPHA:763
Solitary Fibrous Tumor
Neoplasm of the liver, Constipation, Weight loss, Neoplasia of the pleura, Abnormal peritoneum mo... ORPHA:2126
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Coarse hair, Delayed eruption of teeth, Prominent nasal... ORPHA:50814
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Hirschsprung Disease
Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Intestinal po... ORPHA:388
Sialidosis Type 2
Corneal opacity ORPHA:87876
Chronic Pneumonitis Of Infancy
Intercostal retractions, Failure to thrive, Respiratory distress, Ground-glass opacification, Cya... ORPHA:91359
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Megacystis, ... OMIM:619350
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Erythema, Skin ulcer, Congestive he... ORPHA:727
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Supernumerary nipple, Hypert... OMIM:213980
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Hearing impairment, Cirrhosis, Pancreatitis, Weight lo... ORPHA:65682
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Long eyelashes, Thick eyebrow, Curl... ORPHA:1517
Cowden Syndrome 5
Cataract, Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Subcutaneous lipoma... OMIM:615108
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Delayed menarche, Alopecia, Distal amyotrophy ORPHA:412057
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Hypopigmented skin patches, Abnormality of skin pigmentation ORPHA:220402
De Barsy Syndrome
Cataract, Failure to thrive, Downslanted palpebral fissures, Epicanthus, Corneal opacity, Sparse ... ORPHA:2962
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Polymicrogyria, Type II lissencephaly, Remnants of the hyaloid vascular... OMIM:614643
Martsolf Syndrome 1
Cataract, Downslanted palpebral fissures, Low anterior hairline, Low posterior hairline, Abnormal... OMIM:212720
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine ORPHA:54057
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Stevenson-Carey Syndrome
Microphthalmia, Coloboma, Downslanted palpebral fissures OMIM:611961
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Downslanted palpebral fissures, Protruding tongue, Submucous cleft hard palate, ... OMIM:618106
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Type II lissencephaly, Polymicrogyria, Microphthalmia, Co... OMIM:236670
Burning Mouth Syndrome
Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... ORPHA:353253
Syndromic Recessive X-Linked Ichthyosis
Lissencephaly, Corneal opacity ORPHA:281090
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Failure to thrive, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Dahlberg-Borer-Newcomer Syndrome
Generalized hirsutism, Cataract, Anonychia ORPHA:1563
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Descending aortic dissection, Small thenar eminence, Scapular ... OMIM:620080
Mitochondrial Complex I Deficiency, Nuclear Type 1
Tongue fasciculations, Vomiting, Failure to thrive, Concentric hypertrophic cardiomyopathy, Hyper... OMIM:252010
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Premature graying of hair, Abnormal eyebrow morphology, Telecanthus, Ileus, Splenomeg... ORPHA:163746
Adrenoleukodystrophy
Alopecia, Lower limb muscle weakness OMIM:300100
Hereditary Angioedema Type 1
Hypotension, Diarrhea, Vomiting, Dermatographic urticaria, Abnormal soft palate morphology, Respi... ORPHA:100050
Galloway-Mowat Syndrome 1
Cataract, Small nail, Hypoplasia of the iris, Abnormality of neuronal migration, Epicanthus, Ptos... OMIM:251300
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Nep... ORPHA:247691
Feingold Syndrome
Short palpebral fissure, Annular pancreas, Abnormality of the spleen, Micrognathia, Sensorineural... ORPHA:1305
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Multicystic kidney dysplasia, Gastroesophageal reflux, Failure to thrive, Abnormal ... ORPHA:2538
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Dehydration ORPHA:90791
Erdheim-Chester Disease
Congestive heart failure, Xanthelasma, Pleural effusion, Ptosis, Weight loss, Dyspnea, Abnormal p... ORPHA:35687
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Phace Association
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... OMIM:606519
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... ORPHA:329224
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Velocardiofacial Syndrome
Retrognathia, Velopharyngeal insufficiency, Umbilical hernia, Open mouth, Hypoparathyroidism, Cry... OMIM:192430
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Hypoplasia of the maxilla, Microretrognathia, Anteverted nares, Thick eyeb... ORPHA:228396
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Narrow palate, Tented upper lip vermilion, Respiratory failure OMIM:616505
Icf Syndrome
Low-set ears, Umbilical hernia, Micrognathia, Protruding tongue, Epicanthus, Macroglossia, Recurr... ORPHA:2268
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair, Inguinal hernia, Downslanted palpebral fissures ORPHA:1786
Idiopathic Aplastic Anemia
Retinal hemorrhage, Epistaxis, Gingival bleeding, Ecchymosis ORPHA:88
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Hypoplasia of the musculature, Small hypothenar eminence, Eunuchoid habitus, Hirsutis... ORPHA:2463
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios, Failure to thrive ORPHA:223
Niemann-Pick Disease Type C
Fetal ascites, Hearing impairment, Aspiration pneumonia, Respiratory insufficiency, Hepatosplenom... ORPHA:646
Osteoglophonic Dysplasia
Severe short stature, Hypospadias, Hypoplasia of the maxilla, Rhizomelia, Growth delay, Delayed e... OMIM:166250
Oligomeganephronia
Small for gestational age, Dehydration ORPHA:2260
Woodhouse-Sakati Syndrome
Alopecia, Fine hair, Decreased testicular size, Prominent nasal bridge, Hypogonadotropic hypogona... OMIM:241080
Orofaciodigital Syndrome Iv
Lobulated tongue, Hamartoma of tongue, Epicanthus, Short stature, High palate, Tongue nodules, Cl... OMIM:258860
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Cardiorespiratory arrest, Increased circulating pro... ORPHA:293987
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Persistent left super... OMIM:618494
Pallister-Hall Syndrome
Microglossia, Natal tooth, Atresia of the external auditory canal, Anteriorly placed anus, Abnorm... OMIM:146510
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresi... ORPHA:2876
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Mandibular prognathia, Hearing impairment, Abnormality of exocrine pancreas physiology, Hepatic s... ORPHA:93111
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Weight loss, Goiter OMIM:613239
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Upslanted palpebral fissure, Blepharophimosis, Ocular albinism ORPHA:1352
Kniest Dysplasia
Cataract, Conductive hearing impairment, Umbilical hernia, Respiratory distress, Recurrent otitis... OMIM:156550
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Tachypnea, Ptosis, Respiratory failure, Failure to thrive OMIM:615838
Ohdo Syndrome, X-Linked
Sparse eyebrow, High anterior hairline, Downslanted palpebral fissures, Decreased body weight, Ep... OMIM:300895
Warburg Micro Syndrome 2
Cataract, Microcornea, Polymicrogyria, Low anterior hairline, Developmental cataract, Microphthalmia OMIM:614225
Cardiac-Urogenital Syndrome
Accessory spleen, Wide nasal bridge, Unilateral cryptorchidism, Intestinal malrotation, Scimitar ... OMIM:618280
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect OMIM:620511
Laryngotracheal Angioma
Vomiting, Intercostal retractions, Respiratory distress, Apnea, Cyanosis ORPHA:137935
Illum Syndrome
Bradycardia OMIM:208155
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bruising susceptibility, Hearing impairment, Apnea, Pallor, Splenomega... ORPHA:667
Aicardi-Goutieres Syndrome 7
Pneumonia, Atrophic gastritis, Hematochezia, Diarrhea, Vasculitis, Hepatitis, Hypertrophic cardio... OMIM:615846
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Obesity, Mandibular prognathia ORPHA:397973
Trichotillomania
Alopecia OMIM:613229
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Cryptorchidism, Sensorineural hearing impairment, Breech presentation,... OMIM:619847
Cowden Syndrome 6
Cataract, Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Subcutaneous lipoma... OMIM:615109
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Decreased body weight, Joint contracture, Short stature, Advanced ossification of car... OMIM:615349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Microphthalmia OMIM:613155
Hawkinsinuria
Sparse hair, Failure to thrive OMIM:140350
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Paralytic ileus, Constipation, Nausea, Tachycardia, Hypertension, Hepatocellu... OMIM:176000
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele, Cleft palate ORPHA:66637
H Syndrome
Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Hepatosplenomegaly, Camptodactyly, Delayed... ORPHA:168569
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Intrauterine growth retardation, Death in infancy, Cerebellar hypoplasia,... OMIM:300514
Thymoma
Ulcerative colitis, Weight loss, Neoplasia of the pleura, Dyspnea, Neoplasm of the gastrointestin... ORPHA:99867
Yunis-Varon Syndrome
Broad secondary alveolar ridge, Postnatal growth retardation, Agenesis of corpus callosum, Sparse... ORPHA:3472
Hsd10 Disease, Infantile Type
Hearing impairment, Hypertrophic cardiomyopathy, Cyanosis, Gastrointestinal dysmotility, Dysphagia ORPHA:391428
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Respiratory distress, Short nose ORPHA:166272
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Failure to thrive, Nail dystrophy, Myositis, Nailfold capillary tortuosi... OMIM:615934
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Rectovaginal fistul... OMIM:236700
Toriello-Carey Syndrome
Sparse eyebrow, Short palpebral fissure, Anteriorly placed anus, Postnatal growth retardation, Te... ORPHA:3338
Trisomy 8Q
Hypoplasia of penis, Myelomeningocele, Upslanted palpebral fissure, Displacement of the urethral ... ORPHA:1752
Cerebellar-Facial-Dental Syndrome
Severe short stature, Sparse eyebrow, Infancy onset short-trunk short stature, Foot joint contrac... ORPHA:444072
Abetalipoproteinemia
Hepatic fibrosis, Vomiting, Abnormal bleeding, Failure to thrive, Congestive heart failure, Hepat... ORPHA:14
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hearing impairment, Hepatosplenomegaly, Mitral regurgitation, Cryptorchidism, Oral ulcer, Sensori... OMIM:612541
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate,... OMIM:242530
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovarian serous cystadenoma, Hearing impairment, Bilateral cryptorchidism, Unilateral cryptorchidi... ORPHA:1772
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Exertional d... ORPHA:263297
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Thickened nuchal skin fold, Pulmonar... OMIM:620306
Bcard Syndrome
Cataract, Coarse hair, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow... OMIM:612394
Chime Syndrome
Fine hair, Retinal coloboma, Upslanted palpebral fissure, Epicanthus, Ptosis, Corneal opacity, Sp... ORPHA:3474
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Short hard palate, Cachexia, Ptosis ORPHA:1969
Lymphedema-Distichiasis Syndrome
Cataract, Cleft upper lip, Corneal erosion, Abnormality of the pulmonary vasculature, Distichiasi... ORPHA:33001
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Liposarcoma
Weight loss ORPHA:69078
Microphthalmia, Lenz Type
Cataract, Microcornea, Ankyloblepharon, Optic disc coloboma, Chorioretinal coloboma, Microphthalm... ORPHA:568
Myopathy And Diabetes Mellitus
Respiratory distress, Sensorineural hearing impairment ORPHA:2596
Autosomal Dominant Hypocalcemia
Hypotension, Alopecia, Abnormal pattern of respiration, Congestive heart failure, Abnormal finger... ORPHA:428
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Overlapping toe, Talipes equinovarus, T... OMIM:277590
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Severe postnatal growth retardation, Aplasia of the uterus, Vag... ORPHA:2237
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Joubert Syndrome 22
Coloboma, Microphthalmia OMIM:615665
Acrocardiofacial Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular se... ORPHA:2008
Cutis Marmorata Telangiectatica Congenita
Subcutaneous hemorrhage, Intrauterine growth retardation, Micrognathia, Cutis marmorata, Orofacia... ORPHA:1556
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Post... OMIM:620366
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:65286
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Sinus tachycardia, Congestive heart failure, Positive regitine blo... ORPHA:276621
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Recurrent respiratory infections, Villous atrophy, Splenome... OMIM:614162
Immunodeficiency 12
Recurrent aphthous stomatitis, Decreased body weight, Death in adolescence, Short stature, Recurr... OMIM:615468
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Depressed nasal bridge, Natal tooth, Uterus didelphys, Septate vagina, Micrognathia, Neonatal dea... OMIM:617925
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... OMIM:603830
Rhombencephalosynapsis
Agenesis of cerebellar vermis, Fusion of the cerebellar hemispheres, Narrow mouth, Abnormal denta... ORPHA:59315
Rhabdoid Tumor
Respiratory insufficiency, Neoplasm of the liver, Weight loss, Internal hemorrhage, Hypertension ORPHA:69077
Neuromyelitis Optica Spectrum Disorder
Nausea, Respiratory failure ORPHA:71211
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... OMIM:616652
Orofaciodigital Syndrome Ii
Lobulated tongue, Telecanthus, Agenesis of central incisor, Median cleft upper lip, Hydrocephalus... OMIM:252100
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Micrognathia, Macroorchidism, Prominent nasal bridge ORPHA:776
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Adrenal calcification, Cerebral ... ORPHA:51608
Thrombocytopenia 1
Epistaxis, Joint hemorrhage, Bruising susceptibility, Petechiae OMIM:313900
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Abnormality of the ocular adnexa, Sialadenitis, Sclerosing cholangitis,... ORPHA:64744
Classical-Like Ehlers-Danlos Syndrome Type 2
Narrow palate, Alopecia, Tooth malposition, Periodontitis, Bruising susceptibility, Prominent vei... ORPHA:536532
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Small nail, Stillbirth, Epiphyseal stippling, Abnormal cardiac septum morphology, Singl... OMIM:308050
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Gabriele-De Vries Syndrome
Abnormality of the dentition, Sparse eyebrow, Oral-pharyngeal dysphagia, Downslanted palpebral fi... ORPHA:506358
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Exertional dyspnea, Dysphagia ORPHA:368
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Conductive hearing impairment, Sinus tachycardia, Congestive heart ... ORPHA:29072
Thyroid Ectopia
Macroglossia, Umbilical hernia, Dry skin, Lingual thyroid, Constipation, Jaundice, Dysphagia, Ect... ORPHA:95712
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Chronic kidney disease, Elevated circ... ORPHA:84081
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dystrophic fingernails, Recurrent loss of toenails and fingernails, Dystrophic toenail, Esophagea... ORPHA:158673
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Alopecia, Blepharitis, Keratitis, Failure to thrive, Hypoplastic fingernail, Abnormal hair morpho... ORPHA:2273
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Fine hair, Premature graying of hair, Postnatal growth retardation, Intrauterine grow... OMIM:612199
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Congestive heart failure, Pallor, Sensorineural hearing impairment, Paroxysmal atrial t... ORPHA:49827
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... OMIM:167800
Juvenile Huntington Disease
Cerebellar vermis atrophy, Weight loss, Cerebellar atrophy ORPHA:248111
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Obesity, Renal insuffic... ORPHA:247353
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
X Small Rings
Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Ventricular septal defect ORPHA:96201
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Aicardi-Goutières Syndrome
Low-set ears, Hypertrophic cardiomyopathy, Dry skin, Hepatosplenomegaly, Cutis marmorata, Eyelid ... ORPHA:51
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Failure to thrive, Opacification of the corneal stroma, Upslanted palpebral fissure, Ep... OMIM:214110
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infection... OMIM:619632
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Alopecia, Male hypogonadism, Nail dystrophy, Premature ovarian insufficienc... OMIM:240300
Woodhouse-Sakati Syndrome
Alopecia, Hypogonadism, Decreased testicular size, Prominent nose, Streak ovary, Delayed puberty,... ORPHA:3464
Angelman Syndrome
Fair hair, Widely spaced teeth, Obesity, Protruding tongue, Macroglossia, Wide mouth OMIM:105830
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth, Small for gestational age, Neonatal death OMIM:227270
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Kid Syndrome
Abnormality of the dentition, Sparse eyebrow, Posterior blepharitis, Trichilemmoma, Aplastic/hypo... ORPHA:477
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Annular pancreas, Downturned corners of mouth, Bilateral conductive hearing im... ORPHA:488642
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Robinow Syndrome, Autosomal Recessive 1
Small nail, Epicanthus, Micropenis, Hypospadias, Downturned corners of mouth, Downslanted palpebr... OMIM:268310
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Rhizomelia, Small nail, Failure to thrive, Breast hypoplasia, Nail dysplasia, Sparse ... OMIM:614813
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
High anterior hairline, Downturned corners of mouth, Ptosis, Achalasia, Short philtrum, Dysphagia... OMIM:615510
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Goiter, Dry skin, Constipation, Bradycardia, Macroglossia, Thyroid hypoplasia, ... OMIM:218700
Pearson Marrow-Pancreas Syndrome
Erythema, Vomiting, Failure to thrive, Exocrine pancreatic insufficiency, Villous atrophy, Pallor... OMIM:557000
Pfeiffer Syndrome
Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Choanal stenosis, Mandibular ... OMIM:101600
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Recurrent pneumonia, Respiratory distress, Micrognathia, Malar flatten... OMIM:613848
Dravet Syndrome
Pallor, Cyanotic episode ORPHA:33069
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagi... OMIM:147060
Meier-Gorlin Syndrome 7
Low-set ears, Pulmonary hypoplasia, Anal stenosis, Second degree atrioventricular block, Hearing ... OMIM:617063
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge ORPHA:93262
Dend Syndrome
Dehydration ORPHA:79134
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Bruising susceptibility... ORPHA:49042
Blomstrand Lethal Chondrodysplasia
Low-set ears, Cataract, Natal tooth, Premature birth, Long philtrum, Telecanthus, Micrognathia, P... ORPHA:50945
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Epicanthus, Thick eyebrow, Fine hair OMIM:614800
Coccidioidomycosis
Pneumonia, Vasculitis, Vasospasm, Hearing impairment, Respiratory distress, Exudative pleural eff... ORPHA:228123
Meester-Loeys Syndrome
Bifid uvula, Pulmonary artery aneurysm, Poor wound healing, Bruising susceptibility, Umbilical he... OMIM:300989
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Cryptorchidism, Epica... OMIM:312870
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
1Q21.1 Microdeletion Syndrome
Failure to thrive, Long philtrum, Ankyloglossia, Intrauterine growth retardation, Vesicoureteral ... ORPHA:250989
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal fingernail morphology, Telecanthus, Narrow mouth, Deat... ORPHA:989
Lateral Meningocele Syndrome
Keloids, Coarse hair, Downslanted palpebral fissures, Umbilical hernia, Telecanthus, Inguinal her... OMIM:130720
Eosinophilic Gastroenteritis
Ascites, Weight loss, Edema ORPHA:2070
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Hepatomegaly, Dyspnea, Hyperventilation, Tachycardia OMIM:229700
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Hirsutism, Increased body weight, Proximal amyotrophy, Abdominal obesity, Osteoporosis ORPHA:189427
Interstitial Lung And Liver Disease
Hepatic fibrosis, Vomiting, Intraalveolar phospholipid accumulation, Failure to thrive, Respirato... OMIM:615486
3-Methylglutaconic Aciduria, Type Viii
Cataract, Hypopnea, Failure to thrive, Apnea, Neonatal death, Sensorineural hearing impairment, R... OMIM:617248
Galloway-Mowat Syndrome 3
Failure to thrive, Downslanted palpebral fissures, Epicanthus, Microphthalmia, Pachygyria, Lissen... OMIM:617729
Dubowitz Syndrome
Short palpebral fissure, Sparse lateral eyebrow, Hypoplasia of the iris, Megalocornea, Telecanthu... OMIM:223370
Tbck-Related Intellectual Disability Syndrome
Thick eyebrow, Upslanted palpebral fissure, Hirsutism, Epicanthus, Corneal opacity, Synophrys ORPHA:488632
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Obesity, Wide mouth, Protruding tongue, Hypopigmentation of hair, Dysphagia ORPHA:98794
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia, Failure to thrive, Death in childhood OMIM:301108
1P36 Deletion Syndrome
Abnormality of the spleen, Narrow mouth, Hepatic steatosis, Cryptorchidism, Sensorineural hearing... ORPHA:1606
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Progeroid facial appearance, Premature graying of hair, Hyp... ORPHA:280365
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Skeletal muscle atrophy, Failure to thrive OMIM:210210
Apert Syndrome
Bifid uvula, Chiari malformation, Delayed eruption of teeth, Downslanted palpebral fissures, Agen... ORPHA:87
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Darier-White Disease
Subungual hyperkeratotic fragments, Acantholysis, Enlargement of parotid gland, Ridged nail OMIM:124200
Achondroplasia
Premature rupture of membranes, Conductive hearing impairment, Respiratory distress, Recurrent ot... OMIM:100800
Cowden Syndrome 1
Cataract, Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Subcutaneous lipoma... OMIM:158350
Keppen-Lubinsky Syndrome
Recurrent pneumonia, Progeroid facial appearance, Failure to thrive, Premature skin wrinkling, Re... ORPHA:435628
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Elevated circulating creatini... ORPHA:730
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Palpitations, Hypertension associated with pheochromocytoma, Adren... OMIM:168000
Thrombocytopenia 3
Epistaxis, Petechiae OMIM:273900
Pheochromocytoma/Paraganglioma Syndrome 3
Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocytoma, Tachycardi... OMIM:605373
Mitochondrial Complex I Deficiency, Nuclear Type 37
Failure to thrive, Respiratory distress, Pulmonary arterial hypertension, Bradycardia, High palate OMIM:619272
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Alopecia, Smooth tongue, Failure to thrive, Nail dystrophy, Oral mucosal blister... ORPHA:79396
Cap Polyposis
Weight loss ORPHA:160148
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea, Gastroesophageal reflux ORPHA:1949
Oligodontia-Colorectal Cancer Syndrome
Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair OMIM:608615
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Dental malocclusion, Bruising susceptibility, Delayed eruption of teeth, Downslanted... OMIM:612350
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia, Cryptorchidism, Hypospadias OMIM:601499
Oromandibular Dystonia
Blepharospasm, Abnormal lip morphology, Abnormality of the temporomandibular joint, Respiratory d... ORPHA:93958
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Depressed nasal bridge, Hydrometrocolpos, Nail dysplasia, Vaginal atresia, Short stature, Supernu... OMIM:617088
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Polycythemia Vera
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Bruising susceptib... ORPHA:729
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Hypoventilation, ... OMIM:310200
Cirrhosis, Familial
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Increased level ... OMIM:215600
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Umbilical hernia, Abnormal lung lobation, Intestinal malrotation, C... ORPHA:2166
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Hypoplasia of the anterior nas... ORPHA:79345
Cryptococcosis
Pneumonia, Vomiting, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, P... ORPHA:1546
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Telecanthus, Upslanted palpebral fissure, Long palpebral fissure, Hypopigm... ORPHA:1974
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia ORPHA:77298
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Orofaciodigital Syndrome Type 3
Bifid uvula, Abnormality of the dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Sta... ORPHA:2752
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Pancreatitis ORPHA:289916
White-Sutton Syndrome
Failure to thrive, Obesity, Intrauterine growth retardation, Facial hypotonia, Congenital diaphra... OMIM:616364
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Respiratory insufficiency, Neonatal death, Pulmonary arterial hypertension, Re... OMIM:605711
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... OMIM:179800
Kabuki Syndrome 1
Anoperineal fistula, Lateral ventricle dilatation, Postnatal growth retardation, Anal atresia, Hi... OMIM:147920
Short Tarsus With Absence Of Lower Eyelashes
Hypoplasia of the lower eyelids, Absent lower eyelashes OMIM:600269
Bartter Syndrome Type 4
Failure to thrive, Severe failure to thrive, Polyhydramnios, Small for gestational age, Dehydration ORPHA:89938
Hamamy Syndrome
Osteopenia, Sparse eyebrow, Sparse lateral eyebrow, Abnormal number of hair whorls, Complete atri... OMIM:611174
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Short palpebral fissure, Downslanted palpebral fissures, Upslanted palpebral fissure... OMIM:616734
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Respiratory insufficiency, Ileus, Constipation, Tachycardia, Hy... ORPHA:79276
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula... OMIM:620025
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Myelofibrosis
Hepatomegaly, Purpura, Pallor, Splenomegaly OMIM:254450
Telangiectasia, Hereditary Hemorrhagic, Type 4
Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc... OMIM:610655
Pearson Syndrome
Hearing impairment, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Cutaneous photosensitivi... ORPHA:699
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Respiratory distress, Cryptorchidism, Redundant neck skin, Epicanthus, Pulm... ORPHA:2519
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Intractable diarrhea, Diarrhea, Vomiting, Bronchitis, Hepatitis, Anoperineal fistula, ... OMIM:619381
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Ambiguous genitalia, female, Micrognathia, Mandibular condyle hypop... ORPHA:2975
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Dysphagia, Respiratory failure OMIM:613954
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation, Cryptorchidism, Failure to thrive OMIM:615597
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Coffin-Siris Syndrome 1
Low-set ears, Facial hypertrichosis, Dry hair, Hearing impairment, Cutis marmorata, Hypoplastic f... OMIM:135900
Cerebrooculonasal Syndrome
Narrow palate, Sparse eyebrow, Cerebellar vermis hypoplasia, Downturned corners of mouth, Long ph... OMIM:605627
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia OMIM:613730
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation, Cryptorchidism, Failure to thrive ORPHA:370924
Inhalational Anthrax
Abnormal sweat gland morphology, Hypotension, Vomiting, Respiratory distress, Internal hemorrhage... ORPHA:247257
Metatropic Dysplasia
Fetal akinesia sequence, Respiratory failure, Decreased fetal movement, Respiratory insufficiency OMIM:156530
Malaria
Respiratory distress ORPHA:673
Coffin-Siris Syndrome 4
Wide nasal bridge, Macroglossia, Everted upper lip vermilion, Long philtrum, Hypertrichosis, Thic... OMIM:614609
Ulnar-Mammary Syndrome
Axillary apocrine gland hypoplasia, Small scrotum, Imperforate hymen, Sparse lateral eyebrow, Bre... OMIM:181450
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Dysphagia, Respiratory failure, Central hypoventilation OMIM:618233
Elsahy-Waters Syndrome
Hypospadias, Wide nose, Hypoplasia of the maxilla, Impacted tooth, Bulbous nose, Agenesis of inci... OMIM:211380
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Alopecia, Myositis ORPHA:93552
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Epicanthus, Short hard palate, Micropenis, High palate, Downturned corner... OMIM:180700
Camptobrachydactyly
Abnormal fingernail morphology, Septate vagina, Hypoplastic toenails ORPHA:1319
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Telecanthus, Iris coloboma, Supernumerary nipple ORPHA:1236
Scarf Syndrome
Diastasis recti, Low posterior hairline, Hypoplastic nipples, Craniosynostosis, Sparse hair ORPHA:3134
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Alopecia universalis, Patchy alopecia, Hepatosplenomegaly OMIM:606367
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hearing impairment, Dry skin, Cachexia, Prematurely aged appearance, Cutaneous photosensitivity, ... ORPHA:220295
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Failure to thrive,... ORPHA:79282
Van Maldergem Syndrome 2
Wide nasal bridge, Hypospadias, Hypoplasia of the maxilla, High anterior hairline, Dental maloccl... OMIM:615546
Van Esch-O'Driscoll Syndrome
Bifid uvula, Short palpebral fissure, Cerebellar atrophy, Downturned corners of mouth, Growth del... OMIM:301030
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating hepatic transa... OMIM:620138
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a... OMIM:610168
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Congenital diaphragm... ORPHA:991
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Hepatitis Delta
Abnormal bleeding, Hepatitis, Bruising susceptibility, Cirrhosis, Jaundice, Fulminant hepatitis, ... ORPHA:402823
Ring Chromosome 13 Syndrome
Wide nasal bridge, Depressed nasal bridge, Alopecia, Growth delay, Bifid scrotum, Anteverted nare... ORPHA:96176
Benign Schwannoma
Nasal polyposis, Abnormality of the liver, Intestinal polyposis, Abnormal esophagus morphology, A... ORPHA:252164
Fanconi Anemia
Hearing impairment, Aplasia/Hypoplasia of the uvula, Micrognathia, Cryptorchidism, Epicanthus, We... ORPHA:84
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Carious teeth, Abnormal circulating selenium concentration, Anal fissure,... ORPHA:79408
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Disproportionate short-limb short stature, Sparse lateral eyebrow, Intraut... OMIM:618644
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Sparse eyebrow, Small for gestational age, Small... ORPHA:2909
Serotonin Syndrome
Hypotension, Diarrhea, Mydriasis, Nausea, Tachypnea, Tachycardia, Hypertension ORPHA:43116
Succinic Acidemia
Respiratory distress OMIM:600335
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture, Developmental cataract ORPHA:79351
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Varicose veins, Camptodactyly, Pulmonic stenosis OMIM:618343
Glucagonoma
Diarrhea, Increased circulating prolactin concentration, Intestinal obstruction, Weight loss, Ele... ORPHA:97280
Nodular Non-Suppurative Panniculitis
Weight loss, Edema ORPHA:33577
Infantile Nephropathic Cystinosis
Failure to thrive, Dehydration ORPHA:411629
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Sensorineural hearing impairment ORPHA:79097
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Hypomandibular Faciocranial Dysostosis
Choanal stenosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:241310
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Failure to thrive, Supernumerary nipple, Thin eyebrow, Long eyelashes, Thi... OMIM:615485
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepato... OMIM:256550
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Convex nasal ridge ORPHA:1540
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Respiratory insufficiency, Hypertrophic cardiomyopathy, Sensorineural hearing ... OMIM:618329
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Postnatal growth retardation, Cardiomegaly, Short stature, Small... OMIM:613320
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Congenital pulmonary airway malformation, Cleft lip, Intrauterine growth retardatio... OMIM:611812
Wilson Disease
Hepatitis, Bruising susceptibility, Kayser-Fleischer ring, Failure to thrive, Acute hepatitis, He... ORPHA:905
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... OMIM:171420
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hypoplasia of penis, Disproportionate short-limb short stature, Long philtrum, ... ORPHA:93271
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Mirizzi Syndrome
Cholelithiasis, Vomiting, Jaundice, Tachycardia, Pancreatitis, Gallbladder perforation, Abnormal ... ORPHA:521219
Pfeiffer Syndrome Type 2
Low-set ears, Atresia of the external auditory canal, Respiratory distress, Intestinal malrotatio... ORPHA:93259
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Tetraamelia Syndrome 1
Choanal atresia, Absent external genitalia, Micrognathia, Vaginal atresia, Single naris, Hypoplas... OMIM:273395
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Ptosis, Blepharophimosis, Microphthalmia ORPHA:2728
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hypomature enamel, Hematuria, Macroscopic hematuria, A... OMIM:248250
Papillon-Lefèvre Syndrome
Hypertrichosis, Abnormal fingernail morphology, Sparse body hair, Osteolysis, Nail dystrophy, Gen... ORPHA:678
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue, Apnea, Cyanosis, Hearing impairment OMIM:619580
Atelosteogenesis, Type Iii
Depressed nasal bridge, Rhizomelia, Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:108721
Immunodeficiency, Common Variable, 10
Alopecia totalis, Trachyonychia OMIM:615577
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Short palpebral fissure, Optic disc hypoplasia, Chorioretinal coloboma, Op... ORPHA:959
Mosaic Trisomy 1
Hypoplastic thumbnail, Small nail, Polymicrogyria, Downslanted palpebral fissures, Congenital bil... ORPHA:1692
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Failure to thrive, Fine hair, Splenomegaly, Truncal obesity, Hepatomegal... OMIM:222700
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydronephrosis, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Ure... OMIM:314390
Focal Dermal Hypoplasia
Alopecia, Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Corneal opacity, Microp... ORPHA:2092
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Refractory Celiac Disease
Hypoalbuminemia, Protein-losing enteropathy, Elevated circulating hepatic transaminase concentrat... ORPHA:398063
Neurooculorenal Syndrome
Highly arched eyebrow, Cerebellar vermis hypoplasia, Unilateral renal agenesis, Hypoplasia of the... OMIM:620305
Biotinidase Deficiency
Hepatomegaly, Alopecia, Splenomegaly OMIM:253260
Distal Xq28 Microduplication Syndrome
Epistaxis, Hypoplasia of the maxilla, Broad nasal tip, Recurrent upper respiratory tract infectio... ORPHA:293939
Robinow Syndrome
Tooth malposition, Multicystic kidney dysplasia, Small nail, Ankyloglossia, Marked delay in erupt... ORPHA:97360
Treacher Collins Syndrome 2
Lower eyelid coloboma, Cleft palate, Downslanted palpebral fissures OMIM:613717
Branchiooculofacial Syndrome
Low-set ears, Hearing impairment, Supernumerary nipple, Premature graying of hair, Micrognathia, ... OMIM:113620
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Rheumatoid Arthritis
Weight loss, Joint swelling OMIM:180300
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Holoprosencephaly, Cleft lip, Natal tooth, Occipital encephalocele,... OMIM:615948
3P25.3 Microdeletion Syndrome
Microphthalmia, Epicanthus, Blepharophimosis, Downslanted palpebral fissures ORPHA:435638
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ... ORPHA:94059
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Fine hair, Postnatal growth retardation, Ventricular septal defect, Sparse hair ORPHA:251028
Retinitis Pigmentosa
Hypogonadism, Keratoconus, Posterior subcapsular cataract, Abnormal testis morphology ORPHA:791
Unilateral Polymicrogyria
Epistaxis, Pseudobulbar paralysis, Apnea, Cyanosis, Pulmonary arteriovenous malformation, Infanti... ORPHA:268943
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Functional abnor... ORPHA:29073
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Underdeveloped superior crus of antihelix, Delayed eruption of teeth, Hearin... ORPHA:369950
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome... OMIM:219800
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal g... ORPHA:2494
Phace Syndrome
Cataract, Heterochromia iridis, Ptosis, Microphthalmia, Sclerocornea, Lens coloboma, Iris colobom... ORPHA:42775
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Rh Deficiency Syndrome
Hepatosplenomegaly, Intrauterine growth retardation, Oligohydramnios, Tachypnea, Jaundice, Tachyc... ORPHA:71275
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Intrauterine growth retardation, Respiratory failure OMIM:610678
Renal Tubular Acidosis, Proximal
Short stature, Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubu... OMIM:179830
Japanese Encephalitis
Diarrhea, Vomiting, Abnormal pattern of respiration, Respiratory distress, Pulmonary edema, Irreg... ORPHA:79139
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomatic bone, Abnormal dental ename... ORPHA:1798
Cerebellofaciodental Syndrome
Cataract, Sparse eyebrow, Fine hair OMIM:616202
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Bardet-Biedl Syndrome
Irregular menstruation, Depressed nasal bridge, Retrognathia, Aplasia/Hypoplasia of the vagina, H... ORPHA:110
Poliomyelitis
Hypovolemic shock, Hypotension, Vomiting, Paralytic ileus, Hypertension, Nausea, Dysphagia, Respi... ORPHA:2912
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Chiari malformation, Occipital encephalocele, Cleft upper lip, Wide... OMIM:164210
Ehlers-Danlos Syndrome, Periodontal Type, 1
Gingival bleeding, Poor wound healing, Bruising susceptibility, Periodontitis, Umbilical hernia, ... OMIM:130080
Pemphigus Vulgaris
Erosion of oral mucosa, Alopecia of scalp, Oral mucosal blisters, Weight loss, Acantholysis, Urti... ORPHA:704
Schimke Immunoosseous Dysplasia
Coarse hair, Astigmatism, Fine hair, Opacification of the corneal stroma OMIM:242900
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Depressed nasal bridge, Delayed eruption of... ORPHA:192
Scarf Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Diastasis recti, Low anterior hairline, Lo... OMIM:312830
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Dehydration OMIM:246450
Renal Agenesis, Bilateral
Low-set ears, Fetal polyuria, Sirenomelia, Oligohydramnios, Abnormal intestine morphology, Epican... ORPHA:1848
Vipoma
Ascites, Weight loss, Dehydration ORPHA:97282
Developmental And Epileptic Encephalopathy 100
Short palpebral fissure, Gastroesophageal reflux, Hypoplastic fingernail, Micrognathia, Gingival ... OMIM:619777
Leptospirosis
Hypotension, Diarrhea, Hepatitis, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, C... ORPHA:509
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Long philtrum, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Splenomegaly, St... OMIM:259720
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Intestinal fistula... ORPHA:100078
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Spinocerebellar Ataxia Type 1
Dysphagia, Respiratory failure ORPHA:98755
Shwachman-Diamond Syndrome 2
Low-set ears, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic panc... OMIM:617941
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Hearing impairment, Intrauterine growth retardation, Cryptorchidism, Respiratory failure OMIM:620327
Fanconi Anemia, Complementation Group D2
Low-set ears, Annular pancreas, Bruising susceptibility, Hearing impairment, Cryptorchidism, Anem... OMIM:227646
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, White hair, Ocular albinism ORPHA:2720
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Sparse body hair, Breast hypoplasia, Eunuchoid habitus, Delayed puberty, Camptodactyl... ORPHA:432
Craniolenticulosutural Dysplasia
Sparse hair, Posterior Y-sutural cataract, Coarse hair, Brittle hair, Punctate cataract OMIM:607812
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color, Gingivitis, Glossitis, Short stature ORPHA:2116
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Fine hair, Abnormal heart morphology, Frontal upsweep of hair, Mul... OMIM:305450
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Conjunctiv... ORPHA:447
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Failure to thrive, Bulbous nose, Anteverted nares, Broad eyebrow ORPHA:481152
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Meckel Syndrome
Accessory spleen, Cataract, Microcornea, Aplasia/Hypoplasia of the tongue, Low-set, posteriorly r... ORPHA:564
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters OMIM:619817
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Loeys-Dietz Syndrome 5
Bifid uvula, Bruising susceptibility, Retrognathia, Downslanted palpebral fissures, Failure to th... OMIM:615582
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Increased hepatic echogenicity, Apnea, Cyanosis, Hepatic steatosis, Hepatomegaly OMIM:261680
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Failure to thrive, Intrauterine growth retardation, Micrognathia, Cryp... OMIM:613805
Non-Syndromic Posterior Hypospadias
Small for gestational age, Urethral diverticulum, Displacement of the urethral meatus, Esophageal... ORPHA:95706
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Neuroblastoma, Susceptibility To, 1
Weight loss, Horner syndrome, Failure to thrive OMIM:256700
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Failure to thrive, Alopecia totalis, Nail dystrophy, Abnormality of the periungual region ORPHA:293978
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Gastroesophageal reflux, Long philtrum, Downslanted palp... OMIM:117650
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Coloboma, Corneal opacity, Microphthalmia, Lens subluxation ORPHA:85167
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Prominent nasal bridge, Cryptorchidism, Short stature ORPHA:1307
Temtamy Preaxial Brachydactyly Syndrome
Hypoplasia of the maxilla, Micrognathia, Talon cusp, Short stature, Growth delay, Short nose ORPHA:363417
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Convex nasal ridge ORPHA:207
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Palpitations, Shortened PR interval, Prolonged QT interval,... ORPHA:79102
Marfanoid-Progeroid-Lipodystrophy Syndrome
High, narrow palate, Ectopia lentis, Bruising susceptibility, Retrognathia, Progeroid facial appe... OMIM:616914
Myoclonic-Astatic Epilepsy
Frontal balding, Microphthalmia ORPHA:1942
Holoprosencephaly
Highly arched eyebrow, Chorioretinal coloboma, Failure to thrive in infancy, Thick eyebrow, Upsla... ORPHA:2162
Cardioacrofacial Dysplasia 1
Overhanging nasal tip, Nail dysplasia, Hypoplasia of the maxilla OMIM:619142
Down Syndrome
Conductive hearing impairment, Duodenal stenosis, Abnormal fetal nasal bone visualization, Protru... OMIM:190685
Pyruvate Carboxylase Deficiency
Failure to thrive, Dehydration ORPHA:3008
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Micrognathia, Decreased fetal movement, Polyhydramnios, Respiratory failure OMIM:607598
Kagami-Ogata Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Anteverted nares, Micrognathia, ... OMIM:608149
Developmental And Speech Delay Due To Sox5 Deficiency
Dental crowding, Narrow palate, Gastroesophageal reflux, Exaggerated median tongue furrow ORPHA:313892
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Flexion contracture, Dilation of Virchow-Robin spaces, Atrial septal defect OMIM:619720
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Cataract, Gastrointestinal hemorrhage, Pulmonary embolism, Dental crowding, Ectopia lentis, Subcu... ORPHA:394
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Bilateral ptosis, Respiratory distress, Paroxysmal atrial fibrillation, H... OMIM:164310
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Mucopolysaccharidosis Type 3
Cataract, Coarse hair, Hirsutism, Generalized hirsutism, Thick hair, Corneal opacity, Opacificati... ORPHA:581
Vitreoretinochoroidopathy
Microphthalmia, Microcornea, Developmental cataract, Pulverulent cataract OMIM:193220
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tetralogy of Fallot, Abnormal heart morphology, Abnormal pulmonary valve m... ORPHA:261537
Achondrogenesis, Type Ia
Low-set ears, Increased nuchal translucency, Absence of stomach bubble on fetal sonography, Protr... OMIM:200600
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Hepatospl... ORPHA:217085
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Gray Platelet Syndrome
Epistaxis, Bruising susceptibility, Abnormal bleeding, Splenomegaly ORPHA:721
Kabuki Syndrome 2
Atrioventricular canal defect, Coarctation of aorta, Atrial septal defect, Pulmonic stenosis OMIM:300867
Zollinger-Ellison Syndrome
Erythema, Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, I... ORPHA:913
Cartilage-Hair Hypoplasia
Sparse eyebrow, Rhizomelia, Disproportionate short-limb short stature, Failure to thrive, Cardiom... ORPHA:175
Primary Dystonia, Dyt4 Type
Blepharospasm, Respiratory distress, Open mouth, Eunuchoid habitus, Movement abnormality of the t... ORPHA:98805
Carpenter Syndrome 1
Precocious puberty, Depressed nasal bridge, Hypoplasia of the maxilla, Obesity, Micrognathia, Per... OMIM:201000
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Pheochromocytoma, Pulmonary infiltrates, Arrhythmia, Gastr... ORPHA:139411
Nicolaides-Baraitser Syndrome
Dry hair, Sparse medial eyebrow, Hypertrichosis, Unilateral narrow palpebral fissure, Long eyelas... OMIM:601358
Mucopolysaccharidosis Type 2
Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve... ORPHA:580
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth OMIM:618732
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Hurler Syndrome
Generalized hirsutism, Thick eyebrow, Corneal opacity ORPHA:93473
Alstrom Syndrome
Alopecia, Dilated cardiomyopathy, Obesity, Short stature, Truncal obesity, Hepatomegaly, Hyperost... OMIM:203800
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Anal atresia, Respiratory failure, Stillbirth OMIM:276950
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Striae distensa... ORPHA:758
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonar... ORPHA:261552
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Intrauterine growth retardation, Upslanted palpebral... OMIM:614083
Orofaciodigital Syndrome Iii
Bifid uvula, Microdontia, Hyperconvex nail, Bifid tongue, Supernumerary tooth, Tongue nodules OMIM:258850
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Hepatosplenomegaly, Hypersplenism, Portal hyp... ORPHA:98850
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Bleeding with minor or no trauma, Gastrointestinal hemorrhage, Excessive... OMIM:618462
Apolipoprotein A-I Deficiency
Xanthelasma, Opacification of the corneal stroma ORPHA:425
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Elevated circulating creatinine concentration, Uroli... OMIM:220150
Hypoadrenocorticism, Familial
Vomiting, Apnea, Cyanosis OMIM:240200
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Intrauterine growth retardation, Cardiomegaly OMIM:619051
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Gastroesophageal reflux, Growth delay, Diastema, Thick lower lip vermilion, Postnata... OMIM:301040
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma, Optic nerve h... OMIM:243605
Zika Virus Disease
Vomiting, Subcutaneous hemorrhage, Intrauterine growth retardation, Transient hearing impairment,... ORPHA:448237
Graves Disease
Onycholysis, Weight loss, Goiter, Congestive heart failure OMIM:275000
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Failure to thrive, Protruding tongue, Thin upper lip vermilion, Epicanthus... OMIM:617062
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Hepatospl... ORPHA:217093
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Iris hypopigmentation, Abnormal bleeding, Bruising susceptibility, ... ORPHA:167
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Wide nasal bridge, Gastroesophageal reflux, Prominent antihelix, Downturned corners of mouth, Con... ORPHA:466943
Atelis Syndrome 2
Short palpebral fissure, Dacryocystocele, Epicanthus, Developmental cataract, Remnants of the hya... OMIM:620185
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Congenital muscular t... ORPHA:457279
Lathosterolosis
Cataract, Microcornea, Failure to thrive, Downslanted palpebral fissures, Epicanthus, Ptosis, Opa... ORPHA:46059
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Pancreatic atrophy, Pancreatic hypoplasia, Biliary tract abnor... OMIM:137920
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Failure to thrive, Ventricular septal defect, Atrial septal defect, Short stature... OMIM:244450
Autoimmune Hypoparathyroidism
Cataract, Ventricular arrhythmia, Autoimmune hypoparathyroidism, Prolonged QT interval, Dyspnea, ... ORPHA:36913
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Myopathy, Myofibrillar, 7
Enuresis nocturna, Elevated circulating creatine kinase concentration, Dysphagia, Urinary inconti... OMIM:617114
Lymphatic Malformation 7
Chylothorax, Respiratory distress, Increased nuchal translucency, Pleural effusion, Nonimmune hyd... OMIM:617300
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Respiratory failure, Decreased fetal movement, Neonatal death OMIM:619334
Rothmund-Thomson Syndrome Type 1
Carious teeth, Delayed eruption of teeth, Abnormal dental enamel morphology, Alopecia totalis, Hy... ORPHA:221008
Mowat-Wilson Syndrome
Tooth malposition, Chorioretinal coloboma, Supernumerary nipple, Ectopia pupillae, Recurrent otit... OMIM:235730
Peters Plus Syndrome
Micrognathia, Cryptorchidism, Anal atresia, Iris coloboma, Anterior chamber synechiae, Short nose... ORPHA:709
Kyphoscoliotic Ehlers-Danlos Syndrome
Low-set ears, Microcornea, Poor wound healing, Subdural hemorrhage, Bruising susceptibility, Umbi... ORPHA:536545
Primary Release Disorder Of Platelets
Abnormal bleeding, Bruising susceptibility, Menorrhagia, Spontaneous, recurrent epistaxis OMIM:176630
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Difficulty in tongue movements, Penetrating foot ulcers, Respiratory insufficiency, Sen... ORPHA:99956
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Inguinal hernia, Fine hair ORPHA:935
Neuroblastoma
Abnormal bleeding, Respiratory distress, Anemic pallor, Weight loss, Horner syndrome, Chronic dia... ORPHA:635
Holocarboxylase Synthetase Deficiency
Alopecia OMIM:253270
Pallister-Hall Syndrome
Natal tooth, Atresia of the external auditory canal, Auricular tag, Hypopituitarism, Cryptorchidi... ORPHA:672
Pfeiffer Syndrome Type 3
Low-set ears, Hearing impairment, Respiratory distress, Intestinal malrotation, Short nose, High ... ORPHA:93260
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten... OMIM:617159
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy OMIM:620285
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Clinodactyly of the 2nd finger, Thick eyebrow, Clinodactyly of the 4th finger, Hypoplastic sweat ... ORPHA:73223
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Helix Syndrome
Hyperparathyroidism, Dry skin, Xerostomia OMIM:617671
Mowat-Wilson Syndrome
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmonary artery sling, Bi... ORPHA:2152
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Mucopolysaccharidosis, Type Iiid
Coarse hair, Elbow flexion contracture, Facial hirsutism, Thick eyebrow, Inguinal hernia, Hirsuti... OMIM:252940
Aceruloplasminemia
Blepharospasm, Elevated hepatic iron concentration, Abnormal pancreas morphology, Congestive hear... ORPHA:48818
Cystic Fibrosis
Failure to thrive, Dehydration OMIM:219700
X-Linked Dystonia-Parkinsonism
Blepharospasm, Protruding tongue, Impaired oropharyngeal swallow response, Aspiration pneumonia ORPHA:53351
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea OMIM:146255
Distal Renal Tubular Acidosis
Failure to thrive, Dehydration ORPHA:18
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Intrau... OMIM:610505
Glossopharyngeal Neuralgia
Tongue pain, Oral-pharyngeal dysphagia, Abnormal palate morphology, Odynophagia, Syncope, Weight ... ORPHA:221098
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Alopecia of scalp, Nail dystrophy, Ventricular septal defect, Ab... ORPHA:436252
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,... ORPHA:440437
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Right ventricular failure, Protracted diarrhea, Tricuspid regurgitatio... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Right ventricular failure, Protracted diarrhea, Tricuspid regurgitatio... ORPHA:100082
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Monosomy 9P
Highly arched eyebrow, Downslanted palpebral fissures, Thick eyebrow, Upslanted palpebral fissure... ORPHA:261112
Argininosuccinic Aciduria
Trichorrhexis nodosa, Dry hair, Brittle hair OMIM:207900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Polymicrogyria, Microphthalmia, Buphthalmos, Agyria OMIM:616538
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Al-Gazali Syndrome
Sclerocornea, Failure to thrive, Corneal opacity OMIM:609465
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Esophageal varix,... ORPHA:774
Congenital Factor V Deficiency
Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Joint hemorrhage, Epistaxis, Bruisi... ORPHA:326
Catel-Manzke Syndrome
Bifid uvula, Cleft upper lip, Thin eyebrow, Postnatal growth retardation, Intrauterine growth ret... OMIM:616145
Cleidocranial Dysplasia 1
High, narrow palate, Narrow palate, Wide nasal bridge, Neonatal respiratory distress, Absent para... OMIM:119600
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure OMIM:603689
Microcephaly-Micromelia Syndrome
Microphthalmia, Short palpebral fissure, Simplified gyral pattern OMIM:251230
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Tachycardia, Small for gestational age, Premature birth OMIM:609152
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Xerostomia, Hearing impairment, Lacrimal gland hypoplasia, Limbal stem cell defici... OMIM:149730
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Microcornea, Conductive hearing impairment, Bruising susceptibility, High-frequency sensorineural... OMIM:614557
Neuroendocrine Tumor Of The Colon
Hypotension, Right ventricular failure, Protracted diarrhea, Tricuspid regurgitation, Palpitation... ORPHA:100080
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Failure to thrive, Small for gestational age, Dehydration OMIM:601678
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress, Chronic irritative co... ORPHA:141083
Neuroendocrine Tumor Of Stomach
Hypotension, Cardiogenic shock, Right ventricular failure, Protracted diarrhea, Tricuspid regurgi... ORPHA:100075
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Dehydration ORPHA:168558
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Abnormal bleeding, Hepatitis, Bruising susceptibility, Urticaria, Recurrent aphthous ... ORPHA:3261
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Coarctation of aorta, Mitral stenosis OMIM:617260
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Saethre-Chotzen Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Cryptorchidism, Low an... ORPHA:794
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Failure to thrive, Respiratory distress, Exocrine pancreatic insuf... OMIM:260400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Carious teeth, Periodontitis, Xanthelasma, Prolong... ORPHA:79259
Fanconi Anemia, Complementation Group N
Epicanthus, Small for gestational age, Microphthalmia OMIM:610832
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure OMIM:618240
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Dehydration ORPHA:289548
Combined Oxidative Phosphorylation Deficiency 19
Gastroesophageal reflux, Failure to thrive, Respiratory distress, Microvesicular hepatic steatosi... OMIM:615595
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Bruising susceptibility, Poor wound healing, Malar flattening, Breech presentation OMIM:130060
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Fair hair, Cardiomyopathy, Abnormal heart morphology, Slender build, Postnatal growth r... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Fair hair, Cardiomyopathy, Abnormal heart morphology, Slender build, Postnatal growth r... ORPHA:363958
Bullous Pemphigoid
Erythema, Weight loss, Oral mucosal blisters, Urticaria ORPHA:703
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Frontal upsweep of hair, Death in childhood, Cryptorchidism, Rectovaginal f... OMIM:243800
Meckel Syndrome, Type 6
Hepatic fibrosis, Occipital encephalocele, Cleft upper lip, Absent gallbladder, Hepatic cysts, Cy... OMIM:612284
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis, Hypoventilation OMIM:257500
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Toenail dysplasia, Postnatal growth retardation, Intrauterine growth retardation, Hir... OMIM:300966
Fanconi Anemia, Complementation Group I
Decreased body weight, Optic nerve hypoplasia, Astigmatism, Microphthalmia OMIM:609053
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, High palate, Hypertrichosis OMIM:271225
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Oral-pharyngeal dysphagia, Torsade de pointes, Hypertrophic cardiomyopathy, Sensorineural hearing... OMIM:616878
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Cyanosis, Spina bifida, Dysphagia OMIM:207950
Bosma Arhinia Microphthalmia Syndrome
Cataract, Lacrimal duct atresia, Coloboma, Microphthalmia, Synophrys OMIM:603457
Tsh-Secreting Pituitary Adenoma
Secondary growth hormone deficiency, Hypotension, Vomiting, Increased circulating prolactin conce... ORPHA:91347
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Infertility, True hermaph... OMIM:278850
Colchicine Poisoning
Alopecia, Vomiting, Diarrhea, Hypotension, Cardiogenic shock, Congestive heart failure, Respirato... ORPHA:31824
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,... OMIM:610759
Renpenning Syndrome 1
Cataract, Sparse lateral eyebrow, Telecanthus, Upslanted palpebral fissure, Epicanthus, Coloboma,... OMIM:309500
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Primary Fanconi Renotubular Syndrome
Weight loss, Dehydration ORPHA:3337
Pmm2-Cdg
Increased circulating prolactin concentration, Aspiration pneumonia, Aplasia of the ovary, Epican... ORPHA:79318
Laryngomalacia
Respiratory distress OMIM:150280
Genitopatellar Syndrome
Fine hair, Hip contracture, Knee flexion contracture, Arthrogryposis multiplex congenita, Sparse ... ORPHA:85201
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis, Spontaneous esophageal perforation OMIM:277320
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Optic disc coloboma, Ectopia pupillae, Corneal opacity, Microphthalmia, Lens subluxation OMIM:608940
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Elevated circulating creatinine concentrati... OMIM:174000
Alström Syndrome
Testicular fibrosis, Frontal balding, Hepatosplenomegaly, Hepatic steatosis, Polycystic ovaries, ... ORPHA:64
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Pallister-Killian Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Supernumerary nipple, Micrognathia, Cryp... OMIM:601803
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Postnatal growth retardation, Prominent nose, Intrauterine growth reta... ORPHA:251061
Ppoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Cholelithiasis, Pituitary adenom... ORPHA:97278
Solitary Median Maxillary Central Incisor
Cyclopia, Coloboma, Anophthalmia, Microphthalmia OMIM:147250
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... OMIM:171300
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Epicanthus, Arrhythmia, Rectal prolapse, High, narrow palate, Gastroesophageal reflu... ORPHA:285
Camurati-Engelmann Disease
Carious teeth, Delayed eruption of teeth, Urinary retention, Slender build, Splenomegaly, Cachexi... ORPHA:1328
Gm1-Gangliosidosis, Type Ii
Failure to thrive, Gingival overgrowth, Narrow mouth, Splenomegaly, Protruding tongue, Hepatomega... OMIM:230600
Monosomy 9Q22.3
Cataract, Downslanted palpebral fissures, Large for gestational age, Epicanthus, Microphthalmia ORPHA:77301
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Carious teeth, Periodontitis, Abnormal dental enamel morphol... ORPHA:2908
Kindler Syndrome
Symblepharon, Anal stenosis, Carious teeth, Periodontitis, Oral leukoplakia, Ridged nail, Phimosi... OMIM:173650
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Glossoptosis, Cleft palate ORPHA:440354
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Bulbous nose, Persistence of primary teeth, Micrognathia, Malar flatte... OMIM:170390
Thyroid Lymphoma
Respiratory distress, Dyspnea, Dysphagia, Goiter ORPHA:97285
Diamond-Blackfan Anemia 10
Low-set ears, Conductive hearing impairment, Hearing impairment, Atresia of the external auditory... OMIM:613309
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Decrea... OMIM:616263
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Epicanthus, Palpebral fissure narrowing on add... OMIM:607323
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Poor wound healing, Post-partum hemorrhage, Prolonged ble... ORPHA:465
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Microglossia, Narrow mouth ORPHA:1972
Cerebrofacioarticular Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Micrognathia, S... ORPHA:314679
Sanjad-Sakati Syndrome
Astigmatism, Aplasia/Hypoplasia affecting the eye, Corneal opacity ORPHA:2323
Mckusick-Kaufman Syndrome
Failure to thrive, Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Urogenital sinus anom... ORPHA:2473
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Disproportionate short stature, Cleft palate ORPHA:1427
Orofaciodigital Syndrome Type 14
Lobulated tongue, Hamartoma of tongue, Telecanthus, Dilated fourth ventricle, Upslanted palpebral... ORPHA:434179
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Ventricular septal defe... OMIM:620609
Van Maldergem Syndrome 1
Wide nasal bridge, Hypospadias, Hypoplasia of the maxilla, Dental malocclusion, Micrognathia, Mal... OMIM:601390
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Failure to thrive, Corneal opacity ORPHA:1830
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Autoimmune Polyendocrine Syndrome, Type Ii
Keratoconjunctivitis, Alopecia, Band keratopathy, Cataract OMIM:269200
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Bifid uvula, Hearing impairment, Respiratory distress, Malar flattening, Cle... OMIM:183900
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:302350
Huntington Disease
Weight loss, Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Decreased... ORPHA:399
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Arrhythmia, Elevated... ORPHA:465508
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Pigmented Nodular Adrenocortical Disease, Primary, 2
Bruising susceptibility, Striae distensae, Ovarian cyst, Pancreatitis, Truncal obesity, Hypertension OMIM:610475
Glanzmann Thrombasthenia 2
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:619267
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Huntington Disease-Like 1
Weight loss, Cerebellar atrophy ORPHA:157941
Hand-Foot-Genital Syndrome
Uterus didelphys, Small nail, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vagin... OMIM:140000
Cowden Syndrome
Abnormal penis morphology, Failure to thrive, Furrowed tongue, Abnormal cerebellum morphology, Co... ORPHA:201
Campomelia, Cumming Type
Pancreatic cysts, Oligohydramnios, Abnormal intestine morphology, Hydrops fetalis, Hepatomegaly, ... ORPHA:1318
Essential Thrombocythemia
Abnormal bleeding, Bruising susceptibility, Transient ischemic attack, Splenomegaly, Myocardial i... ORPHA:3318
Leprechaunism
Megarectum, Facial hypertrichosis, Nephrocalcinosis, Long penis, Failure to thrive, Hypertrichosi... ORPHA:508
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Failure to thrive, Small for gestational age, Dehydration OMIM:241200
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... OMIM:600460
Spondyloepimetaphyseal Dysplasia, Krakow Type
High palate, Constipation, Annular pancreas, Bruising susceptibility OMIM:618162
Otopalatodigital Syndrome, Type Ii
Low-set ears, Cataract, Conductive hearing impairment, Umbilical hernia, Downslanted palpebral fi... OMIM:304120
Hyperparathyroidism, Transient Neonatal
Wide nasal bridge, Hyperparathyroidism, Low-set ears, Gastroesophageal reflux, Umbilical hernia, ... OMIM:618188
Monosomy 22
Contractures of the large joints, Hepatosplenomegaly, Hyperhidrosis, Sparse hair, Synophrys ORPHA:96123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Type II lissencephaly, Microphthalmia, Pachygyria, Buphthalmos, Persist... OMIM:613150
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... OMIM:264480
Somatostatinoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Increased cir... ORPHA:97283
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis OMIM:150260
Legius Syndrome
Cataract, Hearing impairment, Xanthelasma, Paroxysmal atrial tachycardia, Non-small cell lung car... ORPHA:137605
Myasthenia Gravis
Hepatitis, Hearing impairment, Ptosis, Dysphagia, Raynaud phenomenon, Dyspnea, Acrocyanosis ORPHA:589
Carney Complex
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Ovarian cyst, Incre... ORPHA:1359
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Pachyonychia Congenita 3
Oral leukoplakia, Chapped lip, Onychogryposis of toenails, Furrowed tongue, Nail dystrophy, Gingi... OMIM:615726
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Hypoplasia of the maxilla, Malar flattening OMIM:109120
Robinow Syndrome, Autosomal Recessive 2
Camptodactyly, Bicuspid aortic valve OMIM:618529
Cerebrocostomandibular Syndrome
Hydranencephaly, Multicystic kidney dysplasia, Myelomeningocele, Intrauterine growth retardation,... ORPHA:1393
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Exocrine pancreatic insufficiency, Pancreatic ... ORPHA:1333
Rat-Bite Fever
Vomiting, Diarrhea, Parotitis, Weight loss, Pancreatitis, Scaling skin, Myocarditis, Pericarditis ORPHA:31205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Polymicrogyria, Type II lissencephaly, Microphthalmia, Pachygyria, Agyria, Lissencephaly OMIM:253800
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Duplication Of Urethra
Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde... ORPHA:237
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Sotos Syndrome
Small cell lung carcinoma, Hearing impairment, Small nail, Cryptorchidism, Chronic otitis media, ... ORPHA:821
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Bradypnea, Myelopathy, Respiratory failure OMIM:617186
Fish-Eye Disease
Corneal opacity ORPHA:79292
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Weight loss ORPHA:514
Glycogen Storage Disease Ib
Inflammation of the large intestine, Xanthelasma, Splenomegaly, Oral ulcer, Pancreatitis, Pancrea... OMIM:232220
Monosomy 13Q14
Cataract, Epicanthus, Ptosis, Microphthalmia, Iris coloboma ORPHA:1587
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Dysphagia, Cyanosis, Sensorineural hearing impairment ORPHA:488627
Cranioectodermal Dysplasia 1
Rhizomelia, Short nail, Fine hair, Bicuspid aortic valve, Sagittal craniosynostosis, Slow-growing... OMIM:218330
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Prolonged bleedin... OMIM:615888
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Open mouth, Cyanosis, Gingival overgrowth, Respiratory failure requiring assisted ventilation OMIM:620423
X-Linked Ehlers-Danlos Syndrome
Gastroesophageal reflux, Bruising susceptibility, Umbilical hernia ORPHA:75497
Oculo-Palato-Cerebral Syndrome
Aplasia/Hypoplasia of the nails, Cataract, Leukocoria, Remnants of the hyaloid vascular system, M... ORPHA:2714
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Failure to thrive, Downslanted palpebral fissures ORPHA:157965
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Peg-shaped maxillary lateral incisors, Abnormalit... ORPHA:199306
Alpha-Thalassemia-Myelodysplastic Syndrome
Dyspnea, Bruising susceptibility, Abnormal bleeding, Splenomegaly ORPHA:231401
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Epistaxis, Abnormal bleeding, Spontaneous hematomas OMIM:616176
Mosaic Monosomy X
Hypoplastic left heart, Osteopenia, Alopecia, Growth delay, Abnormal fingernail morphology, Hyper... ORPHA:99228
Monosomy X
Hypoplastic left heart, Osteopenia, Alopecia, Growth delay, Abnormal fingernail morphology, Hyper... ORPHA:99226
Turner Syndrome
Hypoplastic left heart, Osteopenia, Alopecia, Growth delay, Abnormal fingernail morphology, Hyper... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Osteopenia, Alopecia, Growth delay, Abnormal fingernail morphology, Hyper... ORPHA:99413
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect, Patent duc... OMIM:613355
Mucopolysaccharidosis Type 1
Generalized hirsutism, Corneal opacity, Low anterior hairline ORPHA:579
Lynch Syndrome
Gastrointestinal hemorrhage, Pituitary adenoma, Colon cancer, Pancreatic adenocarcinoma, Intestin... ORPHA:144
Biotinidase Deficiency
Alopecia, Limb muscle weakness ORPHA:79241
Acth-Independent Macronodular Adrenal Hyperplasia
Bruising susceptibility, Striae distensae, Macronodular adrenal hyperplasia, Adrenal hyperplasia,... OMIM:219080
Pheochromocytoma/Paraganglioma Syndrome 4
Palpitations, Hypertension associated with pheochromocytoma, Gastrointestinal stroma tumor, Adren... OMIM:115310
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness, Sensorineural hearing impairment OMIM:606071
Wrinkly Skin Syndrome
Atrial septal dilatation, Osteopenia, Hypoplasia of the musculature, Short nail, Failure to thriv... OMIM:278250
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication OMIM:259900
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Phosphoribosylpyrophosphate Synthetase Superactivity
Short stature, Sparse hair, Small for gestational age OMIM:300661
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Failure to thrive OMIM:615085
Crouzon Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Deviated nasal septum, Dysgerminoma OMIM:123500
17Q12 Microdeletion Syndrome
Oligohydramnios, Cryptorchidism, Hearing impairment, Pancreatic aplasia ORPHA:261265
Tropical Pancreatitis
Vomiting, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, J... ORPHA:103918
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Achalasia ORPHA:2400
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Tracheoesophageal fistula, Esophageal atresia, Coronal hypospadias, Short stature OMIM:619859
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Biliary atresia, Esophageal atresia, Short stature, Growth delay OMIM:615272
Sympathetic Ophthalmia
Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterior chamber, Corneal ... ORPHA:79098
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss, Edema ORPHA:324964
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Norrie Disease
Cataract, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, Abnormal pupil morphology, M... ORPHA:649
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Difficulty in tongue movements, Cerebellar atrophy, Failure to thrive, Ton... ORPHA:99949
Proximal Renal Tubular Acidosis
Failure to thrive, Dehydration ORPHA:47159
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Intrauterine growth retardation, Patent foramen ovale, Severe postnatal growth retardation, Atria... OMIM:620005
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Abnormal bleeding, Bruising susceptibility, Sensorineural hearing impairment, Myocardi... OMIM:155100
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Dry hair, Premature graying of hair, Keratoconjunctivitis sic... ORPHA:90324
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Peripheral opacification of the cornea, Hirsutism OMIM:259600
Yellow Fever
Vomiting, Diarrhea, Pancreatic hyperplasia, Abnormal bleeding, Shock, Reduced left ventricular ej... ORPHA:99829
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Respiratory failure, Epicanthus inversus, Upslanted palpebral fissure OMIM:614862
Noonan Syndrome 3
Low-set ears, Bruising susceptibility, Downslanted palpebral fissures, Hypertrophic cardiomyopath... OMIM:609942
Thymic Neuroendocrine Tumor
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:97289
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cataract, Dilated cardiomyopathy, Intestinal pseudo-obstruction, Respiratory insufficiency, Gastr... OMIM:607459
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pheochromocytoma, Sensorineural hearing impairment, Tinnitus, Pulmo... OMIM:193300
Knobloch Syndrome
Abnormal hair morphology, Cataract, Ectopia lentis ORPHA:1571
Myhre Syndrome
Severe short stature, Craniofacial hyperostosis, Hypoplasia of the maxilla, Hypospadias, Abnormal... ORPHA:2588
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroesophageal reflux, Ventricular bigeminy, Failure to thrive, Gastroparesis, Abnormality of t... OMIM:610131
Aicardi Syndrome
Cataract, Sparse lateral eyebrow, Optic disc coloboma, Polymicrogyria, Microphthalmia, Pachygyria... OMIM:304050
Larsen Syndrome
Short nail, Shallow orbits, Corneal opacity OMIM:150250
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Supernumerary nipple, Epicanthus, Microphthalmia, Iris coloboma OMIM:613884
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab... OMIM:123550
Immunodeficiency 23
Failure to thrive, Membranoproliferative glomerulonephritis, High palate, Recurrent respiratory i... OMIM:615816
Lcat Deficiency
Corneal opacity ORPHA:650
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Apnea, Cyanosis, Ptosis, Meconium ileus OMIM:617239
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Silver-gray hair, Bruising susceptibility, Excessive bleeding from ... OMIM:614077
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Bruising susceptibility, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Bruising susceptibility, Menorrhagia OMIM:613554
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia ORPHA:230839
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Elbow contracture, Patent foramen ovale, Hip contracture, Bicuspid aortic ... OMIM:617137
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Multiple Endocrine Neoplasia Type 1
Diarrhea, Shortened QT interval, Pituitary prolactin cell adenoma, Pituitary thyrotropic cell ade... ORPHA:652
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... OMIM:618748
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Organic aciduria, Intrauterine growth retardation, Cerebellar hypoplasia, Wei... OMIM:301310
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea, Optic nerve ... OMIM:206900
Camptobrachydactyly
Septate vagina OMIM:114150
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular septal defect, Coarctation of ... OMIM:618454
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Bicuspid aortic valve, Right aortic arch OMIM:301111
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Periodontitis, Bruising susceptibility, Ocular albinism,... OMIM:214500
Melkersson-Rosenthal Syndrome
Furrowed tongue, Macroglossia, Cheilitis, Oligosacchariduria ORPHA:2483
Leprosy
Alopecia, Skeletal muscle atrophy, Sparse body hair, Foot dorsiflexor weakness, Loss of eyelashes... ORPHA:548
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vomiting, Diarrhea, Absent brainstem auditory responses, Vestibular areflexia, Respiratory failure ORPHA:3240
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Poor wound healing, Subdural hemorrhage... ORPHA:169802
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea, Vomiting, Failure to thrive OMIM:237310
Klatskin Tumor
Weight loss ORPHA:99978
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Small for gestational age OMIM:215250
Tyrosinemia Type 2
Abnormality of the nail, Corneal opacity ORPHA:28378
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Congestive heart failure, Respiratory distress, Cholestasis, Intrauterine grow... OMIM:617156
Malt Lymphoma
Pulmonary infiltrates, Abnormal nasolacrimal system morphology, Constipation, Weight loss, Recurr... ORPHA:52417
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Urinary retention, Megacystis, Megaduodenum, Vesicoure... OMIM:155310
Episodic Ataxia Type 1
Respiratory distress, Nausea ORPHA:37612
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Unconjugated hyperbilirubinemia, Abnormal... ORPHA:232
Geroderma Osteodysplasticum
Severe short stature, Hypoplasia of the maxilla, Abnormal hair morphology, Malar flattening, Mand... OMIM:231070
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility OMIM:262850
Renal Nutcracker Syndrome
Syncope, Weight loss, Orthostatic hypotension, Nausea, Tachycardia ORPHA:71273
Isolated Arrhinia
Eyelid coloboma, Microphthalmia ORPHA:1134
Paternal Uniparental Disomy Of Chromosome 6
Oligohydramnios, Dehydration ORPHA:96191
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Aicardi Syndrome
Sparse lateral eyebrow, Optic disc coloboma, Chorioretinal coloboma, Polymicrogyria, Microphthalm... ORPHA:50
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Localized Scleroderma
Skeletal muscle atrophy, Abnormal skin adnexa morphology, Sclerosis of finger phalanx, Myopathy, ... ORPHA:90289
Fanconi Anemia, Complementation Group C
Epicanthus, Small for gestational age, Microphthalmia OMIM:227645
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Weight loss, Failure to thrive, Dehydration ORPHA:90794
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Wrinkly Skin Syndrome
Sparse hair, Osteopenia, Failure to thrive, Decreased muscle mass, Postnatal growth retardation, ... ORPHA:2834
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Fair hair, Ocular albinism, Iris transillu... OMIM:619172
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Hypoplasia of the musculature, Pulmonary artery aneurysm, Aor... OMIM:609192
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Apnea, Cardiac conduction... ORPHA:255210
Phakomatosis Pigmentokeratotica
Patchy alopecia, Hypophosphatemic rickets, Hyperhidrosis, Rhabdomyosarcoma ORPHA:2874
Neurofibromatosis Type 1
Cataract, Chorioretinal coloboma, Heterochromia iridis, Lisch nodules, Abnormal eyelid morphology... ORPHA:636
Feingold Syndrome Type 1
Nephritis, Short palpebral fissure, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux,... ORPHA:391641
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Proteasome-Associated Autoinflammatory Syndrome 1
Growth delay, Failure to thrive, Skeletal muscle atrophy, Hypertrichosis, Premature graying of ha... OMIM:256040
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Cyanosis OMIM:250790
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation OMIM:618838
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos, Polymicrogyria, Periventricular heterotopia, Up... ORPHA:468631
Fatal Familial Insomnia
Weight loss OMIM:600072
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Failure to thriv... ORPHA:1106
Perry Syndrome
Respiratory insufficiency, Central hypoventilation, Hypoventilation, Respiratory arrest, Weight loss OMIM:168605
Myh9-Related Disease
Bruising susceptibility, Presenile cataracts, Spontaneous, recurrent epistaxis, Sensorineural hea... ORPHA:182050
Hypoglossia-Hypodactylia
Epicanthus, Microglossia, Narrow mouth, Aglossia OMIM:103300
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Wiedemann-Rautenstrauch Syndrome
Aplasia/Hypoplasia of the nails, Cataract, Optic disc hypoplasia, Failure to thrive, Polymicrogyr... ORPHA:3455
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Alopecia ORPHA:227990
Gitelman Syndrome
Hypotension, Vomiting, Failure to thrive, Palpitations, Constipation, Ventricular tachycardia, Pr... OMIM:263800
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Arterial rupture, Dermal translucency, Poor wound healing, Bruising susceptibility OMIM:619120
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Hypotension, Vomiting, Diarrhea, Failure to thrive, Hypertrophic cardiomyo... ORPHA:361
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Hepatic failure, Hydroureter, Megacystis, Intestinal malrotation, Portal hypertension... OMIM:619431
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Holoprosencephaly 7
Bilateral microphthalmos, Upslanted palpebral fissure, Shallow orbits, Microphthalmia, Iris colob... OMIM:610828
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair ORPHA:139399
Immunodeficiency 55
Dry skin, Intrauterine growth retardation, Diarrhea OMIM:617827
Holoprosencephaly 9
Choanal atresia, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Br... OMIM:610829
Focal Dermal Hypoplasia
Toe syndactyly, Supernumerary nipple, Absent toenail, Brittle hair, Foot polydactyly, Sparse hair... OMIM:305600
Primrose Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Sparse bod... OMIM:259050
Peripheral Primitive Neuroectodermal Tumor
Elevated carcinoma antigen 125 level, Abnormal superior cerebellar peduncle morphology, Weight lo... ORPHA:370348
Witteveen-Kolk Syndrome
Cataract, High anterior hairline, Short palpebral fissure, Fine hair, Downslanted palpebral fissu... OMIM:613406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Megalocornea, Type II lissencephaly, Polymicrogyria, Hypoplasia of the retina, Coloboma... OMIM:253280
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Failure to thrive ORPHA:280210
Occipital Horn Syndrome
Atypical scarring of skin, Keloids, Coarse hair, Downslanted palpebral fissures, Inguinal hernia,... ORPHA:198
Roberts Syndrome
Postnatal growth retardation, Knee flexion contracture, Wrist flexion contracture, Progressive fl... ORPHA:3103
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Bleeding Disorder In Hemophilia A Carriers
Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, Prolonged bleeding ... ORPHA:177926
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Intestinal malrotation, Death ... ORPHA:2241
Popliteal Pterygium Syndrome
Small scrotum, Fibrous syngnathia, Bifid scrotum, Cryptorchidism, Pyramidal skinfold extending fr... OMIM:119500
Familial Exudative Vitreoretinopathy
Cataract, Microphthalmia ORPHA:891
Castleman Disease
Restrictive cardiomyopathy, Intestinal obstruction, Abnormality of the gastrointestinal tract, We... ORPHA:160
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age ORPHA:424
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Sparse hair, Joint contracture of the 5th finger OMIM:619934
D-Glyceric Aciduria
Bradycardia OMIM:220120
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Hypohidrosis, Hyperhidrosis, Hepatomeg... OMIM:268800
Alport Syndrome
Aortic aneurysm, Renal glomerular foam cells, Hypertension, Abnormal aortic morphology ORPHA:63
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Bruising susceptibility, Failure to thrive, Bleedi... OMIM:619484
Refsum Disease, Classic
Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Hydrolethalus Syndrome 1
Accessory spleen, Low-set ears, Abnormal lung lobation, Intrauterine growth retardation, Microgna... OMIM:236680
Primary Hyperoxaluria
Abnormality of the dentition, Abnormal dental pulp morphology, Arterial occlusion, Failure to thr... ORPHA:416
Joubert Syndrome 2
Optic disc coloboma, Failure to thrive, Chorioretinal coloboma, Microphthalmia OMIM:608091
Cog8-Cdg
Prolonged prothrombin time, Protein-losing enteropathy, Failure to thrive, Spontaneous hematomas ORPHA:95428
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Basal Cell Nevus Syndrome 1
Microphthalmia, Cataract, Iris coloboma, Orbital cyst OMIM:109400
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Arterial rupture, Dermal translucency, Poor wound healing, Bruising susceptibility OMIM:619115
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Nail dysplasia, Sparse hair, Reduced bone mineral density, Ventricular septal defect OMIM:616682
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent... OMIM:619573
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Anteverted nares, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Parathyroid Carcinoma
Peptic ulcer, Parathyroid carcinoma, Shortened QT interval, Pancreatic adenocarcinoma, Abnormal p... ORPHA:143
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Micrognathia, Tooth agenesis, Heart block ORPHA:1964
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Ocular albinism, ... OMIM:614076
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Alopecia ORPHA:227982
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Open mouth, Protruding tongue, Epicanthus, Micropenis, High palate, Hypospadias, Widely-spaced ma... OMIM:309580
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Ehlers-Danlos Syndrome, Classic-Like, 1
Hiatus hernia, Striae distensae, Poor wound healing, Bruising susceptibility OMIM:606408
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Failure to thrive, Retrognathia, Anteverted nares, Micrognathia, Crypt... ORPHA:2462
African Trypanosomiasis
Diarrhea, Myelopathy, Hepatosplenomegaly, Arrhythmia, Weight loss, Hepatomegaly, Jaundice, Alopec... ORPHA:3385
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Subarachnoid hemorrhage, Asplenia, Short p... OMIM:185070
Van Den Ende-Gupta Syndrome
Sclerocornea, Abnormal eyebrow morphology, Blepharophimosis OMIM:600920
Vacterl With Hydrocephalus
Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Sp... ORPHA:3412
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma OMIM:309801
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Gallbladder Neuroendocrine Tumor
Ascites, Weight loss ORPHA:100086
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Respiratory failure ORPHA:1861
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cryptorchidism, Hepatoblastoma, Placental mesenchymal dys... OMIM:130650
Spondyloepiphyseal Dysplasia Congenita
Disproportionate short-trunk short stature, Glossoptosis, Growth delay, Cleft palate ORPHA:94068
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Weight loss, Mic... OMIM:613673
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Smooth tongue, Respiratory distress, Intrauterine growth retardatio... ORPHA:3206
Mucopolysaccharidosis, Type Vi
Corneal opacity, Hirsutism OMIM:253200
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Exercise-induced rhabdomyolysis, Hypertrophic cardiomyopathy OMIM:201475
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cataract, Ptosis, Failure to thrive, Brittle hair OMIM:124000
Diamond-Blackfan Anemia 1
Congestive heart failure, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, ... OMIM:105650
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Sensorineural hearing impairment, Simple ear, Epicanthus, Posteriorly rotat... OMIM:618733
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Charcot-Marie-Tooth Disease Type 1F
Urinary incontinence, Tongue atrophy ORPHA:101085
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth OMIM:620099
Pancreatoblastoma
Weight loss ORPHA:677
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/Hypoplasia of the nails, Popliteal pterygium, Epicanthus, Ptosis, Blepharophimosis, Micro... OMIM:609945
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Pitt-Hopkins-Like Syndrome 2
Gastroesophageal reflux, Wide mouth, Protruding tongue OMIM:614325
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Gastroesophageal reflux, Pseudobulbar paralysis, Cerebellar dysplas... ORPHA:98889
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Conductive hearing impairment, Hearing impairment, Bruising susceptibility, To... OMIM:616229
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Fle... OMIM:271640
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Intrauterine growth retardation, Ventricular sept... OMIM:617022
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Iris coloboma, Anophthalmia, Microphthalmia ORPHA:2250
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Loeys-Dietz Syndrome
Arterial dissection, Aortic dissection, Camptodactyly of finger, Arterial tortuosity, Aortic aneu... ORPHA:60030
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Cardiomyopathy, Palpitations, Pallor, Neoplasm of the pancreas, Arr... ORPHA:892
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic... ORPHA:904
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Profound sensorineural hearing impairment, Arrhythmia, Syncope, Bilateral sen... ORPHA:90647
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio... OMIM:612347
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Microcolon, Hydroureter, Neonatal death OMIM:619362
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Thrombocytopenia-Absent Radius Syndrome
Cataract, Ptosis, Corneal opacity OMIM:274000
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Occipital Horn Syndrome
Coarse hair, Bruising susceptibility, Long philtrum, Redundant skin, Hiatus hernia, Pili torti, O... OMIM:304150
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Gastroesophageal r... OMIM:619525
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
2Q37 Microdeletion Syndrome
Abnormal aortic morphology, Congenital diaphragmatic hernia ORPHA:1001
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Urinary incontinence, Tongue atrophy, Cerebellar atrophy ORPHA:466768
Encephalitis Lethargica
Bradycardia ORPHA:83600
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Abnormal heart morphology, Dilatation of the cereb... ORPHA:97685
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Cleft Larynx, Posterior
Cyanosis OMIM:215800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... OMIM:175780
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity, Intrauterine growth retardation, Frontal hirsutism, Sparse hair, Shor... OMIM:617157
Gabriele-De Vries Syndrome
Facial hypotonia, Distal arthrogryposis, Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Anteverted nares, Micrognathia, Cryptorchidism OMIM:182212
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Anuria, Ileal atresia, Megacystis, Pyelonephritis, Peritonitis, Pulmonary hypoplasia OMIM:619351
Melnick-Needles Syndrome
Frontal hirsutism, Tricuspid valve prolapse, Coarse hair, Mitral valve prolapse OMIM:309350
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Ocular albinism, Iris transillumination defect, Albinism, Pro... OMIM:614074
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Weight loss ORPHA:309031
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia OMIM:605735
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Systemic Lupus Erythematosus
Alopecia, Weight loss ORPHA:536
Currarino Syndrome
Septate vagina, Rectovaginal fistula, Bicornuate uterus OMIM:176450
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Microphthalmia, Syndromic 6
Microcornea, Failure to thrive, Anophthalmia, Orbital cyst, Coloboma, Microphthalmia, Sclerocornea OMIM:607932
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Myxomatous mitral valve degeneration, Coronary artery steno... OMIM:194050
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Hearing impairment, Cryptorchidism, Anemic pallor, Small for gestational... OMIM:600901
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microphthalmia OMIM:610651
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Hypophosphatemic rickets, Short stature, Dilated cardiomyopathy OMIM:208000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Cyclopia, Iris coloboma, Microphthalmia ORPHA:3186
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Hearing impairment, Cryptorchidism, Anemic pallor, Small for gestational... OMIM:227650
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Failure to thrive ORPHA:583
Choreoacanthocytosis
Blepharospasm, Lateral ventricle dilatation, Elevated circulating aspartate aminotransferase conc... ORPHA:2388
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Developmental cataract, Microphthalmia OMIM:127000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Vater/Vacterl Association
Hypospadias, Occipital encephalocele, Failure to thrive, Postnatal growth retardation, Intrauteri... OMIM:192350
Acute Liver Failure
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hypotension, Abnormal pattern of respiration, He... ORPHA:90062
Peters-Plus Syndrome
Hypoplasia of the maxilla, Facial hypertrichosis, Disproportionate short-limb short stature, Rhiz... OMIM:261540
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating creatinine concentr... ORPHA:91500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent... ORPHA:438213
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Congenital diaphragmatic hernia, Apical muscular ventricular septal defec... OMIM:301022
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Charge Syndrome
Anal stenosis, Renal hypoplasia, Cleft upper lip, Downslanted palpebral fissures, Horseshoe kidne... OMIM:214800
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Pigmented Nodular Adrenocortical Disease, Primary, 1
Striae distensae, Hypertension, Bruising susceptibility, Truncal obesity OMIM:610489
Steinfeld Syndrome
Microphthalmia, Iris coloboma, Retinal coloboma OMIM:184705
Fanconi Anemia, Complementation Group F
Failure to thrive, Microphthalmia OMIM:603467
Familial Thrombocytosis
Abnormal bleeding, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmonary arterial... ORPHA:71493
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Mitochondrial Complex I Deficiency, Nuclear Type 32
Vomiting, Small for gestational age, Failure to thrive, Patent urachus, Respiratory failure OMIM:618252
Aregenerative Anemia
Dyspnea, Abnormal bleeding, Pallor, Bruising susceptibility ORPHA:101096
Pyomyositis
Weight loss ORPHA:764
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:619259
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Craniosynostosis And Dental Anomalies
Depressed nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth... OMIM:614188
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Splenomegaly, Prolonged bleeding time, Men... OMIM:139090
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Femoral-Facial Syndrome
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Pat... OMIM:134780
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Abnormal heart morphology, Radial artery aplasia, Ventricular... ORPHA:124
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Ring Chromosome 7 Syndrome
Short 5th finger, Highly arched eyebrow, Small hand, Slender finger, 3-4 toe syndactyly, Genu val... ORPHA:1449
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Aortic root aneurysm, Camptodactyly of finger, Tetralogy of Fallot, Paten... OMIM:607872
Yunis-Varon Syndrome
Aplasia/Hypoplasia of the nails, Cataract, Sparse eyebrow, Absent nipple, Small for gestational a... OMIM:216340
Behcet Syndrome
Patchy alopecia OMIM:109650
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Slender build, Left ventricular noncompaction cardiomyopathy, Pat... OMIM:300967
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Coarctation of aorta, Unilateral facial palsy, Torticollis, Patent... OMIM:619480
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring OMIM:616954
Barrett Esophagus
Barrett esophagus, Esophageal carcinoma, Gastroesophageal reflux, Esophageal ulceration OMIM:614266
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Presenile cataracts, Bruising susceptibility, Premature graying of hair OMIM:112250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia OMIM:259770
Kabuki Syndrome
Coarctation of aorta, Congenital diaphragmatic hernia, Abnormal cardiac septum morphology ORPHA:2322
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Cryptorchidism ORPHA:1101
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Quebec Platelet Disorder
Epistaxis, Joint hemorrhage, Bruising susceptibility, Menorrhagia OMIM:601709
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Joint swelling ORPHA:85408
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Corneal opacity ORPHA:2369
Townes-Brocks Syndrome
Cataract, Iris coloboma, Failure to thrive, Chorioretinal coloboma, Blepharophimosis, Microphthal... ORPHA:857
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Axenfeld-Rieger Syndrome, Type 1
Wide nasal bridge, Hypoplasia of the maxilla, Hypospadias OMIM:180500
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Premature ventricular contraction OMIM:617072
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Otosclerosis, Bruising susceptibility, Hearing impairment OMIM:166200
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Breech presentation, Fragile skin, Bruising susceptibility OMIM:617821
Floating-Harbor Syndrome
Mesocardia, Coarctation of aorta, Atrial septal defect, Persistent left superior vena cava OMIM:136140
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Microphthalmia, Syndromic 1
Microcornea, Optic disc coloboma, Chorioretinal coloboma, Ciliary body coloboma, Anophthalmia, Pt... OMIM:309800
Holoprosencephaly 2
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Cyclopia, Iris c... OMIM:157170
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Developmental cataract ORPHA:93325
Holoprosencephaly 1
Cyclopia, Microphthalmia OMIM:236100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Opacification of the corneal stroma, Gray matter heterotopia OMIM:615287
Thrombocytopenia 2
Bruising susceptibility OMIM:188000
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Disproportionate short-trunk short stature OMIM:300106
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980

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 Egfr

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 Egfr.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A trans-eQTL network regulates osteoclast multinucleation and bone mass. eLife (June 2020) Egfrtm1a(EUCOMM)Wtsi PMC7351491
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Egfrtm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Egfrtm1a(EUCOMM)Wtsi PMC6459510

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
Egfrtm224(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Egfrtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Egfrtm224(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Egfrtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Egfrtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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