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 |
Neurofibromatosis Type 6 |
|
Freckling, Multiple cafe-au-lait spots |
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, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... |
OMIM:145250 |
Albinism-Deafness Syndrome |
|
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
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 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... |
ORPHA:998 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
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 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
Dyschromatosis Universalis Hereditaria |
|
Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype... |
ORPHA:241 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Alopecia of scalp, ... |
OMIM:617294 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Deafness, Congenital, With Total Albinism |
|
Albinism |
OMIM:220900 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Melanocytic nevus, Hypopigmented skin patches |
ORPHA:2435 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:607624 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Tietz Albinism-Deafness Syndrome |
|
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides |
OMIM:103500 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... |
OMIM:614022 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hyperpigmentation of the skin, Hypopigmented skin patches |
ORPHA:2819 |
Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Coronary Arterial Fistula |
|
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... |
ORPHA:2041 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Nodular goiter, Abnormal neck blood vessel morphology, Spinal cor... |
ORPHA:319487 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Albinism, Oculocutaneous, Type Vi |
|
Fair hair, Generalized hypopigmentation |
OMIM:113750 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Vitiligo |
OMIM:221350 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ... |
ORPHA:99105 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... |
ORPHA:422 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Alopecia, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigment... |
ORPHA:79397 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Drug-Induced Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90157 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Right ventricular dilatation, Left ... |
OMIM:615616 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Hypermelanotic macu... |
ORPHA:69125 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
Anonychia With Flexural Pigmentation |
|
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Atrioventricular canal defect, Patent ductus arteriosus, Death in infa... |
ORPHA:1120 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Spastic Paraplegia 23, Autosomal Recessive |
|
Vitiligo, Premature graying of body hair, Hyperpigmentation in sun-exposed areas, Multiple lentig... |
OMIM:270750 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Dystrophic toenail, Hypopigmentation of the skin, Absent toenail, Abnormal fingernail morphology,... |
ORPHA:89838 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Tricuspid Atresia |
|
Cyanosis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, A... |
ORPHA:1209 |
Congenital Myopathy 8 |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, High palate, Muscle fi... |
OMIM:618654 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricu... |
ORPHA:860 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart mu... |
ORPHA:439 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Respiratory insufficiency, Limb-girdle muscle weakness, Calf muscle hypertrophy, Sinus tachycardi... |
OMIM:255160 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Mottled pigmentation of the trunk and proximal extremities, Discrete 2 to 5-mm hyper- and hypopig... |
OMIM:131960 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Long philtrum, Joint contracture of the hand, Spina bifida, Mitral valve prolapse, Camptodactyly,... |
OMIM:211960 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Nodular goiter, Abnormal neck blood vessel morphology, Chronic no... |
ORPHA:97290 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Situs inversus totalis, Dextrocardia, Right aortic arch, Goiter |
OMIM:617577 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Asbestos Intoxication |
|
Cyanosis, Myocardial fibrosis, Oxygen desaturation on exertion, Pleural thickening, Hepatojugular... |
ORPHA:2302 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Hypoplasia of the diaphragm, Pulmonary hypoplasia, Heart block,... |
ORPHA:185 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated cardiomyopathy, Respirator... |
OMIM:613642 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty hyperpigmentation,... |
ORPHA:79399 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Premature graying of hair, Spina bifida, Synophrys, White eyelashes, White eyebrow, ... |
ORPHA:894 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Respiratory failure, Spinal muscular atrophy, Ventricular septal defec... |
OMIM:253300 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Death... |
OMIM:614096 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Bronchopulmonary Dysplasia |
|
Hyperoxemia, Tracheobronchomalacia, Pulmonary sequestration, Abnormal respiratory system physiolo... |
ORPHA:70589 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Gemignani Syndrome |
|
Hypopigmented skin patches |
ORPHA:2074 |
Vogt-Koyanagi-Harada Disease |
|
Vitiligo, Poliosis, Premature graying of hair, Hypopigmented skin patches |
ORPHA:3437 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive hear... |
ORPHA:91130 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem... |
ORPHA:99104 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Death in middle ag... |
OMIM:613286 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Vitiligo, Multiple lentigines |
ORPHA:101003 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Death in infancy, Cardiomyopathy |
OMIM:212080 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Abnormal heart morphology, C... |
ORPHA:401935 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical m... |
OMIM:207950 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ... |
ORPHA:3426 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosus, Aortopulmo... |
ORPHA:2299 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta, Abnormal hair morphology |
ORPHA:64754 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Persistent fetal circulation, High palate, Long philtrum, High, narrow ... |
OMIM:612863 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Conge... |
OMIM:611880 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair |
ORPHA:79476 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Abnormal P wave, Tricuspid regu... |
ORPHA:99106 |
Hypertrichosis Lanuginosa Congenita |
|
Thick eyebrow, Abnormality of skin pigmentation, Generalized hirsutism |
ORPHA:2222 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Per... |
ORPHA:555874 |
Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:277580 |
Thyroid Dyshormonogenesis 3 |
|
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma |
OMIM:274700 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary arterial hypertension, Sudden cardiac death, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida |
ORPHA:63260 |
Otosclerosis 7 |
|
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Patent foramen ovale, Decreased circulating free T4 concentration, Elevated circu... |
OMIM:225250 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnorm... |
ORPHA:216694 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... |
OMIM:188570 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Cyanosis, Pulmonic stenosis, Chylopericardium, Respiratory distr... |
ORPHA:2414 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Webbed neck, Truncus arteriosus, Ventricular septal defect, Short neck |
ORPHA:2516 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Systolic heart murmur, Truncus arteriosus, Bronchiectasis, Abnormal cardiac septum morp... |
ORPHA:980 |
Albinism, Oculocutaneous, Type V |
|
Albinism |
OMIM:615312 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Hypopigmented skin patches, Onychogryposis of fingernail, Hyperpi... |
ORPHA:2251 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Atrioventricular canal defect, Syringomyelia, Pulmonary artery dilatation, Pleural effu... |
OMIM:265380 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aort... |
OMIM:212093 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Exertional dyspnea, Reduced left ventricular ej... |
OMIM:608751 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale, Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recu... |
OMIM:263000 |
Focal Facial Dermal Dysplasia Type I |
|
Sparse lateral eyebrow, Absent eyelashes, Spotty hypopigmentation, Spotty hyperpigmentation, Dist... |
ORPHA:79133 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... |
OMIM:274500 |
Aplasia Cutis Congenita |
|
Spinal dysraphism, Facial palsy |
ORPHA:1114 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... |
OMIM:619705 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Vascular dilatation, Ventricular arrhythmia, Congestive heart ... |
OMIM:600884 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... |
OMIM:612877 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177910 |
Classic Multiminicore Myopathy |
|
High palate, Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Nocturnal... |
ORPHA:324604 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Abnormality of the... |
ORPHA:1354 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
Perching Syndrome |
|
Cyanosis, High palate, Camptodactyly, Respiratory distress, Joint contracture |
OMIM:617055 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Transposition of the great arteries, Ventricular septal defect, Double outlet ... |
OMIM:231060 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:275200 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Schisis Association |
|
Spina bifida, Congenital diaphragmatic hernia, Anencephaly, Encephalocele |
ORPHA:63862 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Anterior hypopituitarism, Congestive heart failure, Abnormal palate m... |
ORPHA:2022 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Respiratory distress, Dilated cardiomyopathy... |
OMIM:300580 |
Caudal Duplication |
|
Spina bifida, Spinal cord lesion, Myelomeningocele |
ORPHA:1756 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
High palate, Limb hypertonia, Death in infancy, Pericardial effusion, Aortic aneurysm, Atrial sep... |
OMIM:620070 |
Adams-Oliver Syndrome 6 |
|
Portal hypertension, Ventricular septal defect, Truncus arteriosus, Tricuspid regurgitation |
OMIM:616589 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:616760 |
Ebstein Malformation Of The Tricuspid Valve |
|
Respiratory insufficiency, Imperforate tricuspid valve, Sudden cardiac death, Right bundle branch... |
ORPHA:1880 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly |
ORPHA:293 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Cleft palate, Congenital mus... |
ORPHA:2345 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defec... |
ORPHA:3384 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Abnormal... |
ORPHA:206546 |
Congenital Gerbode Defect |
|
Systolic heart murmur, Crackles, Palpitations, Elevated right atrial pressure, Tricuspid regurgit... |
ORPHA:99095 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... |
ORPHA:3400 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Vitiligo |
OMIM:619846 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Pineal cyst, Abnormal op... |
OMIM:617516 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Vascular dilatation, Exertional dyspnea, Pulmonic valve myxoma, Heart mur... |
ORPHA:615 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Secundum atrial septal defect, Hypoxemia, ... |
ORPHA:2257 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... |
OMIM:613854 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
Acute Interstitial Pneumonia |
|
Cyanosis, Bronchiectasis, Pericardial effusion, Pleural effusion, Crackles, Decreased DLCO, Nonpr... |
ORPHA:79126 |
Permanent Congenital Hypothyroidism |
|
Goiter, Hypothyroidism, Thyroid dysgenesis, Umbilical hernia |
ORPHA:226292 |
Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Abnormal cerebral vascular morphology, Pericardial effusion, Gingival ov... |
ORPHA:363705 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Left ventricular outflow tract obstruction, Aortopulmonary window, Pulmonary hypoplasia... |
ORPHA:99050 |
Xeroderma Pigmentosum Variant |
|
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90342 |
Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair |
OMIM:617252 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Camptodactyly, Respiratory distress, Congestive heart failure, S... |
OMIM:619751 |
Band Heterotopia |
|
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Pendred Syndrome |
|
Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274600 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Weakness of long finger extensor muscles, High palate, Exertional dyspnea, Abnormality ... |
ORPHA:98913 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Respiratory distress, Upper airway obstruction, Dyspnea, Microglossia, Clef... |
ORPHA:141152 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Systolic heart murmur, Crackles, Displacement of the papillary muscles, Abnormal P wave... |
ORPHA:1329 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Patent ductus arteriosus, Perimembranous ventricu... |
ORPHA:363444 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... |
ORPHA:50251 |
Phace Association |
|
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven... |
OMIM:606519 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphism, Abnormal aortic morpholo... |
ORPHA:1926 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Generalized hirsutism, Generalized hypo... |
ORPHA:1816 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... |
ORPHA:95430 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens... |
OMIM:540000 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... |
OMIM:615248 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Albinism, Giant melanosomes in melanocytes |
OMIM:300650 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Goiter, Primary hypothyroidism |
OMIM:225040 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks |
OMIM:614323 |
Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Patent ductus arteriosus, Congestive heart failure... |
ORPHA:90308 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Tran... |
OMIM:616749 |
Thyroid Cancer, Nonmedullary, 4 |
|
Papillary thyroid carcinoma, Goiter, Ovarian neoplasm |
OMIM:616534 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biven... |
OMIM:261740 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Genetic Transient Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal radioactive iodine uptak... |
ORPHA:226316 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Pulmonary artery atresia |
ORPHA:1208 |
Idiopathic Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90158 |
Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Respiratory insufficienc... |
OMIM:614399 |
Sandestig-Stefanova Syndrome |
|
High palate, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal... |
OMIM:618804 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... |
OMIM:618845 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, High palate, Spina bifida, Hydrocephalus, Hypoplastic nipples, Pulmonary hypopl... |
ORPHA:2437 |
Thyroid Dyshormonogenesis 1 |
|
Goiter, Hypothyroidism, Umbilical hernia |
OMIM:274400 |
Pagod Syndrome |
|
Meningocele, Sudden cardiac death, Abnormal aortic morphology, Encephalocele, Abnormal testis mor... |
ORPHA:991 |
Lissencephaly 4 |
|
Agenesis of corpus callosum, Colpocephaly |
OMIM:614019 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... |
OMIM:610921 |
Infantile Sialic Acid Storage Disease |
|
High palate, Gingival overgrowth, Hydrocephalus, Congestive heart failure, Cardiomegaly, Death in... |
OMIM:269920 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium,... |
OMIM:601186 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... |
OMIM:613697 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... |
OMIM:220210 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology,... |
ORPHA:1461 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... |
OMIM:274300 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Polymyositis |
|
Respiratory insufficiency, Abnormal atrioventricular conduction, Abnormal pulmonary interstitial ... |
ORPHA:732 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocepha... |
ORPHA:1908 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Patent foramen ovale, F... |
OMIM:616866 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Gonadotropin deficiency, Oxygen desaturation on exertion, Crackles, Wheezing, Ventricular septal ... |
OMIM:610978 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Pericardial effusion, Patent urachus, Pulmonary hypoplasia, Unilateral cr... |
OMIM:618280 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Right ventricular hypertrophy |
OMIM:253700 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Lef... |
ORPHA:85451 |
Thyroid Lymphoma |
|
Hypothyroidism, Hyperthyroidism, Broad neck, Hashimoto thyroiditis, Lymphadenopathy, Goiter |
ORPHA:97285 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Cyanosis, Duodenal atresia,... |
OMIM:306955 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Premature thelarche, Ventricular septal defect, Nodular goiter, Mi... |
ORPHA:371428 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Ventricular septal defect, Paroxysmal atrial tachycardia, Cardiac arrest, C... |
ORPHA:49827 |
Acrocardiofacial Syndrome |
|
Hyperthyroidism, Truncus arteriosus, Ventricular septal defect, Mitral stenosis, Atrial septal de... |
ORPHA:2008 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Premature graying of hair, Spina bifida, Synophrys, White eyelashes, White eyeb... |
OMIM:193500 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, At... |
OMIM:617478 |
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 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect, Notched primary central incisor, Hydrocele testis |
OMIM:620062 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Vitiligo |
OMIM:614468 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Flexion contracture, Wide mouth, Death in infancy, Abnormal aortic valve... |
ORPHA:1194 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Testicular dysgenesis, Tetralogy of Fallot, Abnormality of thyroid physiology, Cryptorchidism |
OMIM:615542 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Respiratory distress, ... |
ORPHA:238329 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Respiratory insufficiency, Flexion contracture, Death in infancy, Congestive heart failure, Myopa... |
ORPHA:157973 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Lower ... |
ORPHA:1143 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... |
OMIM:179613 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... |
ORPHA:95715 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Hydrocephalus, Congestive heart failure |
OMIM:300886 |
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss |
|
Muscular ventricular septal defect, Macrocytic anemia, Cryptorchidism |
OMIM:620071 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
High palate, Short philtrum, Atrial septal defect, Muscular ventricular septal defect, Umbilical ... |
OMIM:618354 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Apnea, Bradycardia |
OMIM:619048 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia, Tooth agenesis, Cardio... |
OMIM:605676 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Primary Ciliary Dyskinesia |
|
Asplenia, Bronchiectasis, Productive cough, Airway obstruction, Abnormal inferior vena cava morph... |
ORPHA:244 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Patent ductus arteriosus, Perimembranous v... |
ORPHA:1457 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Meningocele, Respiratory insufficiency, Diastomatomyelia, Duodenal steno... |
ORPHA:1759 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Stillbirth, Aortic valve... |
OMIM:615415 |
Retinitis Pigmentosa 35 |
|
Abnormality of skin pigmentation |
OMIM:610282 |
Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Cardiomyopathy, Flexion contracture, Respiratory failure, Hypoventilati... |
OMIM:310200 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized hypopigmentation, Spotty hyperpigmentation, Hyperpigmentation of the skin, Nail dystr... |
ORPHA:158681 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Truncus arteriosus, Delayed eruption of prim... |
OMIM:609029 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Respiratory insufficiency, Hip contracture, Spinal muscular atrophy, Hi... |
ORPHA:1145 |
Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
Sandhoff Disease |
|
Recurrent respiratory infections, Congestive heart failure, Splenomegaly, Cherry red spot of the ... |
ORPHA:796 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Umbilical hernia, Death in infancy |
OMIM:254120 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Hypopigmented skin patches |
ORPHA:3239 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Death in childhood, Congestive heart failure, Death in infancy |
OMIM:615440 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ... |
OMIM:265120 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... |
ORPHA:3304 |
Acatalasemia |
|
Vitiligo |
ORPHA:926 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Abnormality of hair texture, Nail dystrophy, Nail dysplasia |
OMIM:601957 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Ragged-red muscle fibers, Congestive heart failure |
OMIM:616794 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Abnormal autonomic nervous system physiology, Limited neck flexion, Cerebral vasc... |
ORPHA:83601 |
Lelis Syndrome |
|
Vitiligo, Perioral hyperpigmentation |
ORPHA:140936 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Microtia, Spina bifida, Attached earlobe, Low-set, posteriorly rotated e... |
ORPHA:1327 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Pe... |
ORPHA:199241 |
Gaucher Disease Type 2 |
|
Flexion contracture, Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough... |
ORPHA:77260 |
Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... |
ORPHA:99094 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis, Narrow mouth, Scapular winging, Cleft palate |
ORPHA:2901 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... |
OMIM:314400 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Skeletal muscle atrophy, C... |
OMIM:300614 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Flexion contracture, Delayed eruption of teeth, Asthma, Widely spaced teet... |
OMIM:309900 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation |
ORPHA:369847 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
Immune-Mediated Necrotizing Myopathy |
|
Abnormal pulmonary interstitial morphology, Raynaud phenomenon, Congestive heart failure, Muscle ... |
ORPHA:206569 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... |
OMIM:620067 |
Oculocutaneous Albinism Type 1 |
|
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... |
ORPHA:352731 |
Graves Disease, Susceptibility To, 1 |
|
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Incre... |
OMIM:275000 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flarin... |
ORPHA:70587 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Le... |
ORPHA:444013 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Sideroblastic anemia, Respiratory distress, Hypertrophic cardiomyopathy, ... |
OMIM:613561 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation |
ORPHA:83473 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
High palate, Ventilator dependence with inability to wean, Macroglossia, Respiratory distress, My... |
ORPHA:254864 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Umbilical hernia |
OMIM:615297 |
Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Arteriovenous malformation, Cerebral arteriovenous malformatio... |
ORPHA:137667 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode, Death in infancy |
OMIM:610992 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Premature graying of hair |
ORPHA:66633 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, High palate, Diaphragmatic eventr... |
OMIM:620011 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Ventricular septal defect, Death in infancy, Spina bifida, Hydrane... |
ORPHA:1393 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Flexion contracture, Abnormal muscle glycogen content, Respiratory dis... |
ORPHA:367 |
Immunodeficiency 7 |
|
Vitiligo |
OMIM:615387 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:249670 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Respiratory insufficiency, Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular... |
ORPHA:1166 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Idiopathic Trachyonychia |
|
Vitiligo |
ORPHA:79153 |
Avian Influenza |
|
Leukopenia, Myelitis, Pneumothorax, Rhabdomyolysis, Productive cough, Hypoxemia, Respiratory dist... |
ORPHA:454836 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Axial muscle atrophy, Limb-girdle muscle weakness, Right bundle branch block, Exertional dyspnea,... |
ORPHA:254361 |
Congenital Hypothyroidism |
|
Abnormal pericardium morphology, Hypothyroidism, Hypogonadism, Optic atrophy, Anterior hypopituit... |
ORPHA:442 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Subcutaneous calcification, Prominent superficial veins, Peripheral art... |
ORPHA:141179 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... |
ORPHA:705 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Type 2 ... |
OMIM:605809 |
Immunodeficiency 95 |
|
Respiratory distress, Lymphopenia, Respiratory failure, Recurrent viral upper respiratory tract i... |
OMIM:619773 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mit... |
ORPHA:324410 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Myositis, Hypertrophic cardiomyopathy, Intestinal obstruction, Eosinop... |
ORPHA:183 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Waardenburg Syndrome, Type 3 |
|
Premature graying of hair, Synophrys, Hypopigmented skin patches, White forelock, Heterochromia i... |
OMIM:148820 |
Myopathy And Diabetes Mellitus |
|
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... |
ORPHA:2596 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
Dilated Cardiomyopathy With Ataxia |
|
Normochromic microcytic anemia, Diaphragmatic eventration, Generalized amyotrophy, Bilateral cryp... |
ORPHA:66634 |
Neonatal Marfan Syndrome |
|
Aortic root aneurysm, Flexion contracture, Ascending tubular aorta aneurysm, Heart murmur, Decrea... |
ORPHA:284979 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Myocardial infarction, Respiratory failure requiring assisted ventilation, C... |
ORPHA:132 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Optic atrophy, Redundant... |
OMIM:618164 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes |
ORPHA:1104 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Hypogonadism, Ventricular septal defect, Delayed er... |
ORPHA:96170 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive vent... |
ORPHA:1302 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Dysp... |
ORPHA:1349 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Bronchogenic Cyst |
|
Abnormal pericardium morphology, Abnormal pleura morphology, Pulmonary cyst, Atelectasis, Abnorma... |
ORPHA:2357 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Goiter, Pancytopenia, Insulin-resistant diabetes mellitus |
OMIM:210740 |
Amish Lethal Microcephaly |
|
Spina bifida, Lissencephaly, Optic atrophy, Limb hypertonia |
ORPHA:99742 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Absent gallbladder, Pancreatic hypoplasia, Patent foramen ovale, Truncu... |
OMIM:600001 |
Hypoglossia With Situs Inversus |
|
Asplenia, High palate, Hypodontia, Polysplenia, Respiratory distress, Situs inversus totalis, Upp... |
OMIM:612776 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre... |
OMIM:610913 |
Anaplastic Thyroid Carcinoma |
|
Broad neck, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy, Goiter |
ORPHA:142 |
Congenital Vertical Talus |
|
Achilles tendon contracture, Distal arthrogryposis, Myelomeningocele, Abnormality of the foot mus... |
ORPHA:178382 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Type 2 muscle fib... |
OMIM:254210 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Normochromic microcytic anemia, Diaphragmatic eventration, Decreased testic... |
OMIM:610198 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Patent ductus arteriosus, Hypothyroidism, Atrioventricular canal defect, Ventricular septal defec... |
ORPHA:3047 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Bacterial endocarditis, Telangie... |
ORPHA:2038 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Hyd... |
ORPHA:90065 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Abnormality of skin pigmentation, Scarring alopecia of scalp, Anonychia, Nail d... |
ORPHA:79402 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Subcutaneous calcification, Prominent superficial veins, Peripheral art... |
ORPHA:141184 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Webbed neck, Ventr... |
OMIM:618316 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Myopathy, Congestive heart failure |
OMIM:618234 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Double outlet right ventricle, Midgut malrotation, Pulmonary insufficiency, Heart murmu... |
ORPHA:2326 |
Sotos Syndrome |
|
Patent ductus arteriosus, Narrow palate, Ventricular septal defect, High palate, Advanced eruptio... |
OMIM:117550 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... |
OMIM:613239 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Generalized... |
ORPHA:52430 |
Cardiomyopathy, Dilated, 2E |
|
Death in infancy, Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systoli... |
OMIM:619492 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, Elbow flexion contracture, Fragile skin, Arterial rupture, Aortic dissectio... |
ORPHA:1900 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Respiratory distress, Cardiomyopathy |
ORPHA:26792 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge... |
ORPHA:275766 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Hypoplasia of right ventricle, Pulmonary artery stenosis, Double out... |
ORPHA:2255 |
Heterotaxy, Visceral, 12, Autosomal |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Pulmonary artery atresia, Secundum atrial... |
OMIM:108900 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Congestive heart failure, Cardiomyopathy |
OMIM:616198 |
Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Long Qt Syndrome 13 |
|
Pulmonary embolism, Torsade de pointes, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Right ventricular dilatation |
ORPHA:369840 |
Aland Island Eye Disease |
|
Albinism |
OMIM:300600 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Melanocytic nevus, Pili torti, Brittle hair, Fine hair, Freckling |
ORPHA:1573 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Tethered cord, ... |
OMIM:617660 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... |
ORPHA:90674 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Bronchiectasis, Long philtrum, Congestive heart failure, Emphysema, Ao... |
OMIM:123700 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Central sleep apnea, Congestive heart failure, Hypertrophic cardiomyopathy, Stroke-like episode, ... |
ORPHA:70472 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partia... |
ORPHA:2847 |