| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Cafe-Au-Lait Spots, Multiple |
|
Multiple cafe-au-lait spots |
OMIM:114030 |
| Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
| Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
| Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
| Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
| Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
| Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
| Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
| Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
| Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Deafness, Congenital, With Total Albinism |
|
Albinism |
OMIM:220900 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation |
OMIM:620199 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Spinal cord compression, Abn... |
ORPHA:319487 |
| Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
| Deafness, Congenital, With Vitiligo And Achalasia |
|
Vitiligo |
OMIM:221350 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
| Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Right ventricul... |
ORPHA:422 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... |
OMIM:115197 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... |
ORPHA:79397 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
| Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia... |
ORPHA:1120 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Spastic Paraplegia 23, Autosomal Recessive |
|
Hyperpigmentation in sun-exposed areas, Multiple lentigines, Premature graying of body hair, Viti... |
OMIM:270750 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... |
ORPHA:89838 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Congenital Myopathy 8 |
|
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... |
OMIM:618654 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... |
ORPHA:860 |
| Tricuspid Atresia |
|
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... |
ORPHA:1209 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, High palate, Type... |
OMIM:255160 |
| Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right vent... |
ORPHA:439 |
| Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ... |
OMIM:131960 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact... |
OMIM:211960 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... |
ORPHA:2302 |
| Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmona... |
ORPHA:185 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter |
OMIM:617577 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
| White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Respiratory... |
OMIM:253300 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Abnormal hair morphology,... |
ORPHA:894 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... |
OMIM:614096 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Aort... |
OMIM:615779 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Vogt-Koyanagi-Harada Disease |
|
Premature graying of hair, Vitiligo, Hypopigmented skin patches, Poliosis |
ORPHA:3437 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
| Gemignani Syndrome |
|
Hypopigmented skin patches |
ORPHA:2074 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis, Myopathy, Low-output congestive heart failure, Hypertrophic cardi... |
ORPHA:91130 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
| Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Cardiogenic s... |
OMIM:619371 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Cardiomyopathy, Dilated, 1Ff |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613286 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
| Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Multiple lentigines, Vitiligo |
ORPHA:101003 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure, Death in infancy |
OMIM:212080 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Syri... |
OMIM:207950 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Nevus Comedonicus Syndrome |
|
Abnormal hair morphology, Spina bifida occulta, Spina bifida |
ORPHA:64754 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Double outlet right ventricle, Coarctation of aort... |
ORPHA:3426 |
| Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... |
ORPHA:2251 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tricuspid regurgitation, Cardiomega... |
ORPHA:555874 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... |
OMIM:611705 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Pulmo... |
ORPHA:401935 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Persistent fetal circulation, Tricuspid regurgita... |
OMIM:612863 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, ... |
ORPHA:2414 |
| Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow |
ORPHA:2222 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr... |
OMIM:225250 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
| Albinism, Oculocutaneous, Type V |
|
Albinism |
OMIM:615312 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus |
ORPHA:2516 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... |
ORPHA:980 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
| Aplasia Cutis Congenita |
|
Facial palsy, Spinal dysraphism |
ORPHA:1114 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
| Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... |
OMIM:212093 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... |
ORPHA:324604 |
| Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... |
OMIM:600884 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... |
OMIM:619705 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi... |
OMIM:612877 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis, High palate, Camptodactyly, Joint contracture |
OMIM:617055 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car... |
OMIM:300580 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
| Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Endocardial Fibroelastosis |
|
Cryptorchidism, Congestive heart failure, Endocardial fibroelastosis, Restrictive cardiomyopathy,... |
ORPHA:2022 |
| Congenital Heart Block |
|
Cyanosis, Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Con... |
ORPHA:60041 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
| Congenital Gerbode Defect |
|
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... |
ORPHA:99095 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
| Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Cleft palate, Ectopic a... |
ORPHA:2345 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension |
OMIM:616589 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... |
ORPHA:86812 |
| Schisis Association |
|
Encephalocele, Congenital diaphragmatic hernia, Anencephaly, Spina bifida |
ORPHA:63862 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, A... |
ORPHA:2257 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... |
ORPHA:3400 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Vitiligo |
OMIM:619846 |
| Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Abnormal optic ... |
OMIM:617516 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Congestiv... |
ORPHA:615 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
| Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... |
ORPHA:79126 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, ... |
OMIM:619751 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... |
ORPHA:363705 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aspiration pneumonia, Micr... |
ORPHA:141152 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... |
ORPHA:50251 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Pericardial effusion, Carious teeth, Multiple muscular ventricular septal defec... |
OMIM:620070 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Abnormality of the dentition, Carious teeth, Muscular ventricular septal def... |
ORPHA:363444 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Reduced vital capacity, Cyanosis, Orthopnea, Facial palsy, Triceps weakn... |
ORPHA:98913 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e... |
OMIM:540000 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Generalized hypopigmentation, Irregular hyperpigmentation, Abnormal eyebrow morphology, Generaliz... |
ORPHA:1816 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
| Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Giant melanosomes in melanocytes, Albinism |
OMIM:300650 |
| Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
| Congenital Vertical Talus |
|
Rocker bottom foot, Equinus calcaneus, Myelomeningocele, Achilles tendon contracture, Abnormality... |
ORPHA:178382 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly |
ORPHA:293 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wal... |
ORPHA:1926 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common at... |
OMIM:616749 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... |
OMIM:614399 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks |
OMIM:614323 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Reduced vital capacity, Internally nucleated skeletal muscle fibers, Ort... |
ORPHA:178464 |
| Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Short neck, Truncus arteriosus |
OMIM:615583 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
| Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Pulmonary embolism, Microcytic ane... |
ORPHA:90308 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart ... |
OMIM:612098 |
| Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... |
OMIM:618280 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Orofacial cleft, Respiratory failure, Perimembranous ventricu... |
OMIM:618804 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Patent for... |
OMIM:616866 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Pagod Syndrome |
|
Encephalocele, Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Situs inversus to... |
ORPHA:991 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Thyroid Dyshormonogenesis 1 |
|
Umbilical hernia, Hypothyroidism, Goiter |
OMIM:274400 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypopl... |
OMIM:601186 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Congestive heart failure, Ging... |
OMIM:269920 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of the gre... |
OMIM:306955 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... |
OMIM:220210 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
OMIM:610978 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Right ventricular hypertrophy |
OMIM:253700 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Tongue fasciculations, ... |
ORPHA:238329 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Lymphadenopathy, Broad neck, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
| Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition... |
ORPHA:1461 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxy... |
ORPHA:49827 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrial septal defect, Papilledema, Bicuspid aortic valve, Ventricular septal defect, Premature th... |
ORPHA:371428 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Death in infancy, Congestive heart failure, Flexion contracture, Respira... |
ORPHA:157973 |
| Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Spina bifida, Synophrys, Myelomeningocele, Blue... |
OMIM:193500 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... |
ORPHA:1143 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... |
ORPHA:244 |
| Familial Cold Autoinflammatory Syndrome 3 |
|
Vitiligo |
OMIM:614468 |
| Acrocardiofacial Syndrome |
|
Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Coarctation of aorta... |
ORPHA:2008 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Apnea, Congestive heart failure, Bradycardia, Left ventricular hypertrophy |
OMIM:619048 |
| Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
| Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Diastomatomyelia, Meningocele, Res... |
ORPHA:1759 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Leukocytosis, Limited neck flexion, Abnormal autonomic nervous system physio... |
ORPHA:83601 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
| Birk-Aharoni Syndrome |
|
Cryptorchidism, Muscular ventricular septal defect, Macrocytic anemia |
OMIM:620071 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Abnormal pulmonary valve morphology, Camptodactyly of finger, Cryptorchidism, C... |
ORPHA:1194 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... |
ORPHA:158681 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
| Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal defect, Umbilical ... |
OMIM:618354 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Notched primary central incisor, Muscular ventricular septal defect |
OMIM:620062 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
| Sandhoff Disease |
|
Splenomegaly, Recurrent respiratory infections, Cherry red spot of the macula, Congestive heart f... |
ORPHA:796 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Death in infancy, Hypertrophic cardiomyopathy, Congestive heart failure, Death in childhood |
OMIM:615440 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
| Deafness-Vitiligo-Achalasia Syndrome |
|
Hypopigmented skin patches |
ORPHA:3239 |
| Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,... |
OMIM:615415 |
| Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... |
OMIM:265120 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
| Neuralgic Amyotrophy |
|
Scapular winging, Cleft palate, Respiratory insufficiency, Narrow mouth, Acrocyanosis |
ORPHA:2901 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary... |
ORPHA:199241 |
| Porphyria Cutanea Tarda, Type I |
|
Hyperpigmentation of the skin, Hypertrichosis |
OMIM:176090 |
| Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... |
ORPHA:1145 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Pulm... |
OMIM:179613 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Respiratory failure, Ragged-red muscle fibers |
OMIM:616794 |
| Emanuel Syndrome |
|
Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Delayed eruption of primary t... |
OMIM:609029 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology |
OMIM:615542 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Splenomegaly, Flexion con... |
ORPHA:77260 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnorm... |
OMIM:300614 |
| Acatalasemia |
|
Vitiligo |
ORPHA:926 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Lelis Syndrome |
|
Perioral hyperpigmentation, Vitiligo |
ORPHA:140936 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Abnormal EKG, Respiratory insufficiency due to mu... |
OMIM:310200 |
| Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Scapular winging, Camptodactyly of finger, S... |
ORPHA:1327 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Desminopathy |
|
Sudden cardiac death, Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakne... |
ORPHA:98909 |
| 7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular c... |
ORPHA:251061 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal... |
ORPHA:70587 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia |
ORPHA:261102 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation |
ORPHA:369847 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
| Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ... |
ORPHA:206569 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Rag... |
OMIM:613561 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... |
ORPHA:254864 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... |
ORPHA:454836 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Fle... |
ORPHA:367 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defe... |
ORPHA:3304 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Ventricular septal defect, Spina bifida, Tracheo... |
ORPHA:1393 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Uv-Sensitive Syndrome 1 |
|
Freckling, Pigmentation anomalies of sun-exposed skin |
OMIM:600630 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... |
OMIM:620011 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Immunodeficiency 7 |
|
Vitiligo |
OMIM:615387 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Tethered cord, Redundant neck skin, Mitral atresia, Patent ductus art... |
OMIM:618164 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
| Idiopathic Trachyonychia |
|
Vitiligo |
ORPHA:79153 |
| Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Abnormality of ... |
ORPHA:137667 |
| Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
| Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
| Non-Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141179 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Cough, Acrocyanosis, Abnormal pericardium morphology,... |
ORPHA:183 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension... |
ORPHA:1349 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, Congestive heart failur... |
ORPHA:324410 |
| Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... |
ORPHA:2596 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insuffici... |
ORPHA:1166 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Hydrocephalus |
ORPHA:83473 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre... |
OMIM:619773 |
| Waardenburg Syndrome, Type 3 |
|
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... |
OMIM:148820 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Hypoplastic tricuspid valve, Diabetes mellitus, Double outlet left ventricle,... |
OMIM:600001 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
| Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Pancytopenia, Goiter |
OMIM:210740 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure... |
ORPHA:132 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, P... |
ORPHA:330012 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Crackles, Nonproductive cou... |
ORPHA:1302 |
| Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidis... |
OMIM:615524 |
| Emanuel Syndrome |
|
Delayed eruption of teeth, Redundant neck skin, Ventricular septal defect, Cryptorchidism, Patent... |
ORPHA:96170 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, High palate, Hy... |
OMIM:612776 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated card... |
ORPHA:66634 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the gallbladder, Atr... |
ORPHA:2255 |
| Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Spina bifida |
ORPHA:1104 |
| Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Tricuspid regurgitation, High, narrow palate, Abnormal cardiac ven... |
ORPHA:284979 |
| Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Broad neck, Goiter |
ORPHA:142 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Amish Lethal Microcephaly |
|
Optic atrophy, Lissencephaly, Spina bifida, Limb hypertonia |
ORPHA:99742 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murm... |
ORPHA:2038 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnormal pleura morphology, Abnormal ... |
ORPHA:2357 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Congestive heart failure, Ab... |
ORPHA:52430 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... |
ORPHA:79402 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Abnormal heart valve morphology, Intestinal pseudo-obstruction, Spleno... |
OMIM:309900 |
| Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Cryptorchidism, Conges... |
OMIM:610198 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:618234 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
| Rapidly Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141184 |
| Cardiomyopathy, Dilated, 2E |
|
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... |
OMIM:619492 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, High, narrow palate, Wrist drop, Muscle fiber atrophy, Poor wound healing,... |
ORPHA:1900 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Ventricular septal defect, Thyroid agenesis, Cryptorchidism, Patent ductus ar... |
ORPHA:3047 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
| Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Myopathy, Cardiomyopathy |
ORPHA:26792 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Decreased nerve conduction ve... |
ORPHA:477817 |
| Sotos Syndrome |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, High, narrow palat... |
OMIM:117550 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal jugular vein morphology, Increased pulmonary vascular resistanc... |
ORPHA:275766 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Right ventricular dilatation |
ORPHA:369840 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Aland Island Eye Disease |
|
Albinism |
OMIM:300600 |
| Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hydrocephalus... |
ORPHA:90065 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... |
OMIM:620236 |
| Phenylketonuria |
|
Generalized hypopigmentation, Fair hair, Blue irides |
OMIM:261600 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal de... |
OMIM:617660 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti |
ORPHA:1573 |
| Uv-Sensitive Syndrome 3 |
|
Freckling |
OMIM:614640 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Short lingual frenulum, Anomalous origin of left coronary artery ... |
ORPHA:2326 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Prematurely aged appearance, Ventricular septal defect, Progeroid facial ap... |
OMIM:123700 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber size, Congestiv... |
ORPHA:79083 |
