Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Sparse hair, Hypodontia, Alopecia, Aplasia/Hypoplasia of the eyebrow, Premature... |
ORPHA:50944 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... |
ORPHA:157798 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... |
ORPHA:145 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Neoplasm, Generalized hirsutism, Ovarian neoplasm, Macroglossia, Hyp... |
ORPHA:2221 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous ... |
ORPHA:83469 |
Congenital Macroglossia |
|
Hypothyroidism, Neurofibromas, Abnormal hepatic glycogen storage, Macroglossia |
ORPHA:2430 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Subependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251639 |
Ependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251636 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Ovarian Cancer |
|
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma |
OMIM:167000 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Werner Syndrome |
|
Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the oral cavity, Hypogonadism, Whi... |
ORPHA:902 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Pleuropulmonary blastoma, Nephroblastoma, Thyroid nodule, Embryonal rhabdomyosarcoma, Ovarian the... |
OMIM:180295 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... |
ORPHA:206484 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Abnormality of the peritoneum |
ORPHA:2023 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... |
OMIM:158320 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Sensorineural hearing impairment, Enamel hypoplasia, Unilateral vestibular schwannoma, Amelogenes... |
OMIM:603641 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia |
ORPHA:88643 |
Cowden Syndrome 1 |
|
Hydrocele testis, High palate, Ovarian cyst, Varicocele, Furrowed tongue, Colonic diverticula, Su... |
OMIM:158350 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Hepatomegaly, Abnormal external genitalia, Cleft palate, Facial hypertri... |
ORPHA:3473 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Dental malocclusion, Low anterior hairline, Ovarian neoplasm, Sparse h... |
OMIM:617883 |
Mast Cell Sarcoma |
|
Sarcoma, Hepatomegaly, Hypoplasia of the ear cartilage, Splenomegaly |
ORPHA:66661 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Increased serum testosterone level, Hirsutism, Fibrosarcoma, Abnormal end... |
ORPHA:314478 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Abnormal hair morphology, Tracheoesophageal fistula, Abnormality of the... |
ORPHA:2591 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Gonadoblastoma, Decreased testicular... |
OMIM:616425 |
Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Lymphoma, Renal insufficiency, Sarcoma |
ORPHA:454 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... |
OMIM:616000 |
Bazex Syndrome |
|
Lung adenocarcinoma, Neoplasm, Liposarcoma, Yellow nails, Nail dystrophy, Lip hyperpigmentation |
ORPHA:166113 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Posterior helix pit, Diastasis recti, Hepatomegaly, Hepatoblastoma, Renal cortic... |
OMIM:130650 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Emphyse... |
OMIM:618913 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... |
ORPHA:137608 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceride... |
OMIM:246700 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Precocious puberty, Ovarian neoplasm, Peripheral primitive... |
ORPHA:370348 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... |
OMIM:619868 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Adrenocortical Carcinoma |
|
Lung adenocarcinoma, Adrenocorticotropic hormone deficiency, Paradoxical increased cortisol secre... |
ORPHA:1501 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Lynch Syndrome |
|
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Malabsorption, Ovarian neopl... |
ORPHA:144 |
Carney Complex |
|
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Increased circulating insulin-like... |
ORPHA:1359 |
Lhermitte-Duclos Disease |
|
Ovarian neoplasm, Macroglossia, Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroi... |
ORPHA:65285 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
Familial Pancreatic Carcinoma |
|
Neoplasm of the liver, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Breast carcin... |
ORPHA:1333 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Precocious puberty, Hemangioma, Multiple enchondromatosis... |
ORPHA:296 |
Ovarian Fibroma |
|
Mesenteric cyst, Odontogenic keratocysts of the jaw, Peritonitis, Gonadal calcification, Basal ce... |
ORPHA:314473 |
Polyembryoma |
|
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... |
ORPHA:180229 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Nephrotic syndrome, Male pseudohermaphroditism, Gonadal dysgenesis, Focal... |
OMIM:136680 |
Coffin-Siris Syndrome 2 |
|
High palate, Wide mouth, Abnormal pinna morphology, Cleft palate, Short philtrum, Delayed eruptio... |
OMIM:614607 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Decreased serum e... |
OMIM:615723 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma, Multinodular goiter, Nail dystrophy, Alopecia |
OMIM:618373 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circula... |
ORPHA:103910 |
Legius Syndrome |
|
Nephrolithiasis, Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmo... |
ORPHA:137605 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
46,Xy Sex Reversal 6 |
|
Chordee, Sex reversal, Hirsutism, Sparse axillary hair, Hypospadias, Clitoral hypertrophy, Dysger... |
OMIM:613762 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... |
ORPHA:251510 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma |
OMIM:614337 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Abnormal hair quantity, ... |
ORPHA:457059 |
Yellow Nail Syndrome |
|
Neoplasm, Yellow nails, Renal neoplasm, Toenail dysplasia, Neoplasm of the lung, Fingernail dyspl... |
ORPHA:662 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Tall stature, Oligospermia, Long penis, Abnormal hair morphology, Macroorchidism |
ORPHA:3000 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Asbestos Intoxication |
|
Interlobular septal thickening, Lung adenocarcinoma, Myocardial fibrosis, Pleural thickening, Sub... |
ORPHA:2302 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Woolly hair, Alopecia, Hypergonadotropic hypogonadism, Micropenis, Woolly scalp hair, Decreased t... |
OMIM:601217 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macrotia, Cardiomegaly, Macroorchidism |
OMIM:300886 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
Beckwith-Wiedemann Syndrome |
|
Posterior helix pit, Exocrine pancreatic insufficiency, Wide mouth, Hepatomegaly, Hepatoblastoma,... |
ORPHA:116 |
Schopf-Schulz-Passarge Syndrome |
|
Sparse hair, Hypodontia, Onycholysis, Squamous cell carcinoma, Basal cell carcinoma, Poroma, Ridg... |
OMIM:224750 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Macrotia, Obesity, Bilateral sensorineural hearing impairment, Thick lower lip ve... |
OMIM:300238 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Tooth agenesis, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, To... |
ORPHA:2722 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... |
ORPHA:1193 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Hypertrichosis, Low anterior hairl... |
ORPHA:528 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
Down Syndrome |
|
Conductive hearing impairment, Anal atresia, Type II diabetes mellitus, Narrow mouth, Sparse hair... |
ORPHA:870 |
Costello Syndrome |
|
Large earlobe, Papilloma, Hypoplastic toenails, Narrow palate, Woolly hair, Macroglossia, Pulmoni... |
ORPHA:3071 |
Porphyria Cutanea Tarda |
|
Alopecia, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis, Porphyrinuria, Onycholysis |
OMIM:176100 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
Lujan-Fryns Syndrome |
|
High palate, Protruding ear, Atrial septal defect, Disproportionate tall stature, Abnormality of ... |
ORPHA:776 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Oral mucosal blisters, Oral ulcer, Sarcoma |
ORPHA:63455 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Ambiguous genitalia, female, Nephrotic syndrome, Ambiguous genitalia, mal... |
OMIM:194080 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Hematuria, Sarcoma |
ORPHA:69077 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Cronkhite-Canada Syndrome |
|
Hypoplastic toenails, Neoplasm, Malabsorption, Hepatomegaly, Patchy alopecia, Stomach cancer, Spl... |
ORPHA:2930 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Alopecia, Sparse hair... |
OMIM:275400 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617156 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Micropenis, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Macro... |
OMIM:613156 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Aa Amyloidosis |
|
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Malabsorption, A... |
ORPHA:85445 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
High palate, Increased muscle glycogen content, Hepatomegaly, Macroglossia, Ragged-red muscle fib... |
ORPHA:254864 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Familial Adenomatous Polyposis 1 |
|
Hepatoblastoma, Adrenocortical adenoma, Carious teeth, Odontoma, Small intestine carcinoid, Adren... |
OMIM:175100 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Abnormality of the dentition, Odontoma, Small intestine c... |
ORPHA:79665 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Breast carcinoma, Decreased circulating cortisol level, Mal... |
ORPHA:90790 |
Liposarcoma |
|
Abnormality of the kidney, Sarcoma |
ORPHA:69078 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
Xp22.13P22.2 Duplication Syndrome |
|
High palate, Sparse hair, Congenital diaphragmatic hernia, Recurrent upper respiratory tract infe... |
ORPHA:284180 |
Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Type II diabetes mellitus, Hepatomegaly, Abnormal helix... |
ORPHA:61 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
Neuroendocrine Neoplasm Of Appendix |
|
Increased serum serotonin, Adrenocorticotropic hormone excess, Ovarian neoplasm, Hepatomegaly, Tr... |
ORPHA:100079 |
Cowden Syndrome |
|
High palate, Furrowed tongue, Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gl... |
ORPHA:201 |
Triploidy |
|
Abnormal cardiac septum morphology, Wide mouth, Narrow mouth, Hepatomegaly, Hypoplasia of penis, ... |
ORPHA:3376 |
Zimmermann-Laband Syndrome 2 |
|
Sensorineural hearing impairment, Hypertrichosis, Hirsutism, Thick eyebrow, Gingival overgrowth, ... |
OMIM:616455 |
Clark-Baraitser syndrome |
|
Maxillary lateral incisor microdontia, Macroorchidism, Tall stature, Prominent median palatal rap... |
OMIM:300602 |
Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Wide mouth, Hypertrichosis, Hirsutism, Thick eyebrow, Sparse hair, Macroglossi... |
OMIM:614608 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Uplifted earlobe, Tented upper lip vermilion, Synophrys, Open mouth, Dental crowding, Macroorchidism |
OMIM:300143 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Generalized hirsutism, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Alopecia, Splenomegaly, Lymphoma, Abnormality of the small intestine... |
ORPHA:100025 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Wide mouth, Abnormal pinna morphology, Macroglossia, Micropenis, Hypospadias, ... |
OMIM:300354 |
17Q11.2 Microduplication Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Thin vermilion border, Enamel hypoplasia, Abnormal dental ename... |
ORPHA:139474 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Megalencephaly |
|
Atrial septal defect, Macroorchidism, Truncal obesity, Long penis |
ORPHA:2477 |
Mccune-Albright Syndrome |
|
Pancreatitis, Abnormal endocrine physiology, Benign gastrointestinal tract tumors, Ovarian cyst, ... |
ORPHA:562 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
External genital hypoplasia, Hypospadias, Ovotestis, Premature loss of permanent teeth, Ambiguous... |
OMIM:610644 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Breast carcinoma, Alopecia, Carious teeth, Enamel hypoplasia, Ridged nail |
OMIM:614564 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Macroorchidism, Tall stature, Prominent median palatal rap... |
OMIM:300431 |
Trisomy 20P |
|
Abnormal antihelix morphology, Abnormality of the dentition, Coarse hair, Abnormality of the uret... |
ORPHA:261318 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... |
OMIM:253300 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Everted lower lip vermilion, Overfolded helix, Mitral valve prolapse, Cont... |
ORPHA:324410 |
Erythrokeratodermia Variabilis |
|
Protruding ear, Generalized hirsutism, Alopecia, Abnormal testis morphology, Diabetes mellitus, H... |
ORPHA:317 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Ectopic Aldosterone-Producing Tumor |
|
Ovarian neoplasm, Renal cortical adenoma, Tinnitus, Decreased circulating renin level, Glucocorto... |
ORPHA:231632 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Ragged-red muscle fibers, Increase... |
OMIM:500009 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Macroglossia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Abnor... |
ORPHA:99886 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Intellectual Developmental Disorder, X-Linked 2 |
|
High palate, Macroorchidism |
OMIM:300428 |
Autosomal Recessive Spastic Paraplegia Type 18 |
|
High palate, Wide mouth, Abnormal pinna morphology, Hip contracture, Thick eyebrow, Ankle flexion... |
ORPHA:209951 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... |
OMIM:208540 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... |
OMIM:610755 |
Coffin-Siris Syndrome 4 |
|
Sparse scalp hair, Wide mouth, Hirsutism, Hypertrichosis, Thick eyebrow, Macroglossia, Long eyela... |
OMIM:614609 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Ovarian neoplasm, Alopecia, Neoplasm of the small intestine, Glycosuria, Neopla... |
ORPHA:79474 |
Functioning Gonadotropic Adenoma |
|
Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le... |
ORPHA:91348 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Pulmonary hypoplasia, Esophagea... |
ORPHA:731 |
Trisomy 17P |
|
High palate, Wide mouth, Cleft palate, Skeletal muscle atrophy, Hypoplasia of penis, Flexion cont... |
ORPHA:261290 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Oligohydramnios |
OMIM:617021 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
|
High palate, Wide mouth, Abnormal pinna morphology, Thick eyebrow, Macroglossia, Short philtrum, ... |
ORPHA:280384 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Wide mouth, Low anterior hairline, Cryptorchidism, Macroglossia, Open mouth, Arthrog... |
ORPHA:369891 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Alopecia, Cirrhosis, Hypogonadotropic hypogonadis... |
OMIM:235200 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
High palate, Hypertrichosis, Hepatosplenomegaly, Hypothyroidism, Fibroma, Deep philtrum, Recurren... |
OMIM:619750 |
Monosomy 22 |
|
High palate, Sparse hair, Micropenis, Aplasia of the thymus, Thin vermilion border, Hepatosplenom... |
ORPHA:96123 |
Oculoskeletodental Syndrome |
|
Low anterior hairline, Hepatomegaly, Cryptorchidism, Macroglossia, Splenomegaly, Renal agenesis, ... |
OMIM:618440 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Coarse hair, Enlarged kidney, Long eyelashes, Proteinuria, Nephrotic syndrome, Flex... |
OMIM:617303 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... |
ORPHA:99095 |
Diaphanospondylodysostosis |
|
Cleft palate, Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidne... |
OMIM:608022 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy |
OMIM:614947 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... |
OMIM:615415 |
Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Abnormal pinna morphology, Persistence of primary teeth, Macrogloss... |
OMIM:610253 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity, Macrotia, Everted lower lip vermilion, Macroorchidism |
ORPHA:85286 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Hepatomegaly, Overfolded helix, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive hea... |
OMIM:605676 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Increased body weight, Cutaneous myxoma, Abdominal obesity, Nephrolithiasis, Pigmented ... |
ORPHA:189439 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... |
ORPHA:480536 |
Classic Mycosis Fungoides |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Alopecia, Lymphoma, Abnormality of the nai... |
ORPHA:2584 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Burkitt lymphoma, Multiple myeloma, Hodgkin lymphoma, B-cell lymphoma, Prostate cancer, Hepatic f... |
ORPHA:158057 |
Simpson-Golabi-Behmel Syndrome |
|
Wide mouth, Hepatomegaly, Hepatoblastoma, Abnormal helix morphology, Tall stature, Cleft palate, ... |
ORPHA:373 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Cryptorchidism, Macroglossia, Everted lower lip vermilion, Open mouth, Transposition ... |
OMIM:616789 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
Crandall Syndrome |
|
Sensorineural hearing impairment, Pili torti, Hypoplasia of penis, Brittle hair, Alopecia, Sparse... |
ORPHA:202 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy |
ORPHA:2515 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... |
OMIM:616827 |
Rabson-Mendenhall Syndrome |
|
High palate, Hypertrichosis, Abnormality of the dentition, Advanced eruption of teeth, Long penis... |
ORPHA:769 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Nail dystrophy, Long philtrum, Carcinoma |
OMIM:615225 |
Alopecia Areata 1 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits |
OMIM:104000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Abnormality of the dentition, S... |
ORPHA:733 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormality of the dent... |
ORPHA:1008 |
Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp |
OMIM:610753 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair |
OMIM:203655 |
Proteus Syndrome |
|
Lymphangioma, Ovarian neoplasm, Disproportionate tall stature, Neoplasm of the thymus, Long penis... |
ORPHA:744 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Ventricular septal defect, Pyloric stenosi... |
ORPHA:261494 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Hirsutism, Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant ... |
ORPHA:90301 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sensorineural hearing impairment, Abnormality of the tongue, Sparse hair, Hypodontia, Alopecia, A... |
ORPHA:659 |
Thauvin-Robinet-Faivre Syndrome |
|
Sensorineural hearing impairment, Tall stature, Macroglossia, Nephroblastoma, Overgrowth, Bifid u... |
OMIM:617107 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
High palate, Flexion contracture, Wrist flexion contracture, Male hypogonadism, Macrotia, Obesity... |
OMIM:300055 |
Hypotrichosis 5 |
|
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Basal Cell Nevus Syndrome |
|
Cleft upper lip, Medulloblastoma, Cleft palate, Odontogenic keratocysts of the jaw, Rhabdomyoma, ... |
OMIM:109400 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Macroorchidism, Sparse eyebrow, Sparse eyelashes, Hypospadias, Bilateral cleft lip a... |
OMIM:618874 |
Fragile X Syndrome |
|
Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macroorchidism, Macrotia |
OMIM:300624 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm, Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Monosomy 9Q22.3 |
|
Low-set ears, Narrow mouth, Medulloblastoma, Thickened ears, Tall stature, Odontogenic keratocyst... |
ORPHA:77301 |
Perlman Syndrome |
|
Low-set ears, Congenital diaphragmatic hernia, Long upper lip, Nephrogenic rest, Open mouth, Neph... |
OMIM:267000 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Abnormal cardiac septum morphology, Aortic valve stenosis, Cryptorchidism, Hypoplasia of penis, E... |
ORPHA:96147 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Abnormally folded helix, Atrial septal defect, Disproportionate tall stature, Tall s... |
OMIM:309520 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Skeletal muscle hypertrophy, Hypothyroidism, Jaundice, Myopathy |
ORPHA:2349 |
Alg6-Cdg |
|
Jaundice, Macroglossia, Protein-losing enteropathy, Low-set ears, Puberty and gonadal disorders, ... |
ORPHA:79320 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Adrenal insufficiency, Central adrenal insufficiency, Flexion contracture, Alopecia, Hypodontia, ... |
OMIM:612079 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Cleft palate, Camptodactyly of toe, Camptodactyly of finger, Fibroma... |
OMIM:300244 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:615297 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Ectopic anus, Narrow palate, Ova... |
ORPHA:87 |
Desmoid Tumor |
|
Malabsorption, Desmoid tumors, Abnormality of the upper urinary tract, Intestinal obstruction, Fi... |
ORPHA:873 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Hypoalbuminemia |
OMIM:618805 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Microtia, Nephroblastoma, Multiple lipomas, Ovarian serous cystadenoma, Enlarge... |
ORPHA:276280 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
Grange Syndrome |
|
Ventricular septal defect, Hypertension, Aortic regurgitation, Patent ductus arteriosus |
ORPHA:79094 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthrogryposis... |
OMIM:614262 |
Candidiasis, Familial, 1 |
|
Premature loss of teeth, Abnormality of the endocrine system, Alopecia |
OMIM:114580 |
Congenital Disorder Of Deglycosylation 2 |
|
High palate, Macroglossia, Microtia, Cleft earlobe, Hypothalamic hamartoma, Hamartoma of tongue, ... |
OMIM:619775 |
Crouzon Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Dysgerminoma, Dental crowding |
OMIM:123500 |
H Syndrome |
|
Cleft upper lip, Abnormal eyebrow morphology, Hypertrichosis, Malabsorption, Gingival overgrowth,... |
ORPHA:168569 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, Hepatomegaly, Abnormal helix morphology, Ventricular septal defect, Clitoral hypertr... |
OMIM:214100 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Patent ductus arteriosus after birth at term, Second degree atrioventricu... |
OMIM:618782 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Arthrogryposis multiplex conge... |
OMIM:607598 |
47,Xyy Syndrome |
|
Low-set ears, Increased serum testosterone level, Cryptorchidism, Tall stature, Micropenis, Hypos... |
ORPHA:8 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block, Ventricular ... |
OMIM:115197 |
Tuberous Sclerosis 2 |
|
Optic nerve glioma, Cortical tubers, Absence of renal corticomedullary differentiation, Retinal h... |
OMIM:613254 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hypertrichosis, Atrial septal defect, Hepatoblastoma, Teratoma, Micropenis, Bicornuate uterus, Hy... |
OMIM:269150 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, High palate, Hypertrichosis, Dental crowding, Macroglossia, Lon... |
OMIM:616354 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Decreased liver function, Abnormal pinna morphology, Hypertrichosis, Hepatomegaly... |
OMIM:618268 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Abnormal pinna morphology, Hepatomegaly, Pancreatic fibrosis, Cystic renal dys... |
OMIM:200995 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Schinzel-Giedion Syndrome |
|
High palate, Wide mouth, Abnormal helix morphology, Hepatoblastoma, Infantile sensorineural heari... |
ORPHA:798 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... |
ORPHA:79140 |
Tuberous Sclerosis 1 |
|
Optic nerve glioma, Subependymal nodules, Precocious puberty, Subungual fibromas, Cortical tubers... |
OMIM:191100 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age |
OMIM:256300 |
Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Facial diplegia, Testicular atrophy, Hyperinsulinemia, Alopecia, Hypergonadotropi... |
ORPHA:273 |
Fragile X Syndrome |
|
Mitral valve prolapse, Protruding ear, Macroorchidism |
ORPHA:908 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Familial Thyroid Dyshormonogenesis |
|
Sensorineural hearing impairment, Thyroid defect in oxidation and organification of iodide, Decre... |
ORPHA:95716 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Alopecia, Lymphoproliferative disorder, Recurrent... |
OMIM:615559 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... |
OMIM:616052 |
Alg9-Cdg |
|
Wide mouth, Hypertrichosis, Hepatomegaly, Hypoplasia of the bladder, Hepatic cysts, Enlarged kidn... |
ORPHA:79328 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Endocrine-Cerebroosteodysplasia |
|
Cleft upper lip, Sex reversal, Abnormal pinna morphology, Low-set ears, Cleft palate, Micropenis,... |
OMIM:612651 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Congenital Hypothyroidism |
|
Nephrolithiasis, Abnormality of the thyroid gland, Prolonged neonatal jaundice, Abnormal pericard... |
ORPHA:442 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Agenesis of permanent teeth, Sparse hair, Alopecia |
OMIM:212835 |
Alopecia Universalis |
|
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia |
ORPHA:701 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Alopecia universalis, Periodontitis, Congenital alopecia totalis |
OMIM:104130 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach, Abnormal hai... |
ORPHA:618 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle... |
ORPHA:1209 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Alg3-Cdg |
|
High palate, Decreased liver function, Abnormal pinna morphology, Abnormality of the endocrine sy... |
ORPHA:79321 |
Opsoclonus-Myoclonus Syndrome |
|
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... |
ORPHA:1183 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... |
ORPHA:523 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft upper lip, Anal atresia, Cleft palate, Micropenis, Intestinal malrotation, Bifid tongue, En... |
OMIM:613091 |
Liang-Wang Syndrome |
|
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... |
OMIM:618729 |
Dermatomyositis |
|
Lung adenocarcinoma, Neoplasm, Abnormal hair quantity, Breast carcinoma, Gastrointestinal stroma ... |
ORPHA:221 |
Non-Functioning Pituitary Adenoma |
|
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... |
ORPHA:91349 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Posterior helix pit, Hypertrichosis, Wide mouth, Hepatomegaly, Hepatoblastoma, Tall stature, Shor... |
OMIM:312870 |
Parc Syndrome |
|
Cleft palate, Absent eyebrow, Absent eyelashes, Alopecia |
OMIM:600331 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
Sézary Syndrome |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Alopecia, Lymphoma, Abnormal pleura morpho... |
ORPHA:3162 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Hypoalbuminemia |
OMIM:618347 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:95717 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Multipl... |
ORPHA:220460 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, EMG: myopathic abnormal... |
OMIM:608840 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Renpenning Syndrome |
|
Sensorineural hearing impairment, Anal atresia, Narrow mouth, Abnormal hairshaft morphology, High... |
ORPHA:3242 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Squamous cell carcinoma, Basal cell carcinoma |
OMIM:618267 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Macroglossia, Congenital hypothyroidism, Delayed eruptio... |
OMIM:614450 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation |
ORPHA:83473 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia, Pedal edema, Patent ductus arteriosus |
OMIM:126320 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Al Amyloidosis |
|
Abnormal cardiac ventricle morphology, Hepatomegaly, Nephrotic syndrome, Macroglossia, Renal inte... |
ORPHA:85443 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, Shoulder ... |
OMIM:606612 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome |
|
Carcinoid tumor, Neurofibromas, Pheochromocytoma, Jaundice |
OMIM:162240 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism, Rhabdomyolysis, Hepatomegaly, Macroglossia |
OMIM:251900 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Permanent Congenital Hypothyroidism |
|
Macroglossia, Thyroid dysgenesis, Hypothyroidism, Goiter, Jaundice |
ORPHA:226292 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature loss of teeth, Premature graying of hair, Sparse hair, Alopecia, Cirrhosis, Interstitia... |
OMIM:127550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... |
OMIM:616501 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133700 |
Thyroid Hemiagenesis |
|
Thyroid agenesis, Jaundice, Macroglossia |
ORPHA:95719 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Dyskeratosis Congenita, X-Linked |
|
Alopecia, Carious teeth, Horseshoe kidney, Carcinoma, Cirrhosis, Decreased testicular size, Pulmo... |
OMIM:305000 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Decreased circulating T4 concentration, Macroglossia, Congenital hypothyroidism, Large for gestat... |
ORPHA:226313 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... |
ORPHA:71505 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Genital neoplasm, Neoplasm, Neoplasm of the liver, Uterine neoplasm, Hypoinsulinemia, Prostate ca... |
ORPHA:2126 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Mulibrey Nanism |
|
Myocardial fibrosis, Dental malocclusion, Hepatomegaly, Hypodontia, Nephroblastoma, Recurrent low... |
OMIM:253250 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sensorineural hearing impairment, Sparse hair, Alopecia, Long philtrum, Hypothyroidism, Low-set e... |
OMIM:617763 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Sensorineural hearing impairment, Protruding ear, Macroglossia, Proportionate tall stature, Nephr... |
ORPHA:500095 |
Gm1 Gangliosidosis |
|
Hirsutism, Generalized hirsutism, Narrow mouth, Gingival overgrowth, Macroglossia, Splenomegaly, ... |
ORPHA:354 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... |
OMIM:232200 |
Anauxetic Dysplasia 2 |
|
Nail dysplasia, Hypodontia, Sparse hair, Flexion contracture, Macroglossia, Small nail |
OMIM:617396 |
Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Sparse hair, Sparse eyebrow, Alopecia, Overfolded helix, Delayed eruption of teeth, ... |
OMIM:268400 |
Kaposiform Lymphangiomatosis |
|
Papilloma, Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple r... |
ORPHA:464329 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Multiple joint contractures, Neoplasm, Selective tooth agenesis, Decrea... |
ORPHA:2959 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... |
ORPHA:276152 |
Craniofaciofrontodigital Syndrome |
|
Hypertrichosis, Low anterior hairline, Atrial septal defect, Bicuspid aortic valve, Aortic valve ... |
ORPHA:363705 |
Dyskeratosis Congenita |
|
Hepatomegaly, Sparse hair, Hepatic failure, Alopecia, Abnormality of the dentition, Tracheoesopha... |
ORPHA:1775 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Obesity, Macroorchidism |
ORPHA:3077 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Facial pals... |
OMIM:613155 |
Pontocerebellar Hypoplasia, Type 9 |
|
Short upper lip, Abnormal pinna morphology, Facial hypotonia, Macroglossia |
OMIM:615809 |
Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Gingival overgrowth, Hepatomegaly, Cryptorchidism, Macroglossia, Hig... |
OMIM:618143 |
Mucopolysaccharidosis, Type Vii |
|
Sensorineural hearing impairment, Hirsutism, Gingival overgrowth, Hepatomegaly, Thick eyebrow, Ch... |
OMIM:253220 |
Mastocytosis |
|
Hepatomegaly, Splenomegaly, Sarcoma, Chronic leukemia, Acute leukemia |
ORPHA:98292 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Sparse hair, Absent eyebrow, Microtia, Micropenis,... |
OMIM:147770 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Atrial septal defect |
ORPHA:3469 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Stomach cancer, Abnormality of the ureter, Neoplasm of the small intestin... |
ORPHA:2869 |
Mucopolysaccharidosis, Type Iiid |
|
Wide mouth, Hirsutism, Hepatomegaly, Thick eyebrow, Macroglossia, Splenomegaly, Facial hirsutism,... |
OMIM:252940 |
Bresek Syndrome |
|
Protruding ear, Cryptorchidism, Cleft palate, Alopecia, Hypoplasia of the bladder, Renal dysplasi... |
ORPHA:85284 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormal pinna morphology, Atrial septal defect, Brittle hair, Alopecia, Everted lower lip vermil... |
ORPHA:75389 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
High palate, Supernumerary nipple, Macroglossia, Microtia, Micropenis, Hypospadias, Long philtrum... |
OMIM:141750 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Wide mouth, Attached earlobe, Prominent crus of helix, Microdontia, Unilateral renal agenesis, Th... |
OMIM:619194 |
Mucopolysaccharidosis, Type Ii |
|
Hypertrichosis, Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, Hepatosplenomegaly... |
OMIM:309900 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hurthle cell thyroid adenoma, Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephro... |
OMIM:145001 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula... |
OMIM:242150 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp |
OMIM:617294 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189427 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sensorineural hearing impairment, Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Squamous c... |
OMIM:602540 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... |
OMIM:601005 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Ureteral obstruction, Hematuria, Renal inte... |
ORPHA:449395 |
Papillon-Lefèvre Syndrome |
|
Hypertrichosis, Generalized hirsutism, Tooth agenesis, Periodontitis, Sparse body hair, Abnormali... |
ORPHA:678 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... |
ORPHA:93108 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... |
ORPHA:587 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Abnormality of the dentition, Melanoma, Basal cell carcinoma, Decreas... |
OMIM:620040 |
Immunodeficiency 27A |
|
Weight loss, Hypoalbuminemia |
OMIM:209950 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Sensorineural hearing impairment, High palate, Dental crowding, Atrial septal defect, Oligosaccha... |
ORPHA:397709 |
Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Protruding ear, Sparse hair, Alopecia, Everted lower lip vermilion, Onychogryposis of fingernail,... |
ORPHA:2251 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head ... |
ORPHA:352540 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Hearing impairment, Alopecia |
OMIM:125230 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:619717 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... |
ORPHA:2041 |
Orofaciodigital Syndrome I |
|
High palate, Sparse hair, Cleft palate, Hypothalamic hamartoma, Ovarian cyst, Alopecia, Dry hair,... |
OMIM:311200 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Sensorineural hearing impairment, Low-set ears, U-Shaped upper lip vermilion, Macroglossia, Micro... |
OMIM:301040 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Nail dysplasia, Hepatomegaly, Alopecia, Delayed puberty, Skeletal muscle atrophy, Pulmonary fibrosis |
OMIM:615704 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Pancreatitis, Hepatocellular adenoma, Enlarged kidney, Carious teeth, Proteinuria, ... |
ORPHA:79259 |
Nicolaides-Baraitser Syndrome |
|
Wide mouth, Sparse hair, High, narrow palate, Alopecia, Everted lower lip vermilion, Thin vermili... |
ORPHA:3051 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Wide mouth, Cleft palate, Hemangioma, Eclabion, Limb hypertonia, Short philtrum, Microdontia, Hor... |
OMIM:619950 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Bilateral b... |
ORPHA:52901 |
Thumb Deformity And Alopecia |
|
Solitary median maxillary central incisor, Alopecia |
OMIM:188150 |
Nephronophthisis 2 |
|
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... |
OMIM:602088 |
Leprechaunism |
|
Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Facial hypertrichosis, Increased circulating reni... |
ORPHA:508 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Atrial septal defect |
ORPHA:1388 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Flexion contracture, Alopecia, Hypergonadotropic hypogonadism, Sparse body hai... |
ORPHA:2850 |
Neurofibromatosis Type 1 |
|
Chronic myelogenous leukemia, Tall stature, Abnormality of the upper urinary tract, Leukemia, Men... |
ORPHA:636 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Meacham Syndrome |
|
Blind vagina, Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Pulmonar... |
OMIM:608978 |
Milroy Disease |
|
Hydrocele testis, Toenail dysplasia, Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
High palate, Wide mouth, Hepatomegaly, Nephronophthisis, Microdontia, Cholestasis, Pancreatic cys... |
OMIM:266920 |
Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
Tyrosinemia, Type I |
|
Paralytic ileus, Hepatomegaly, Hepatic failure, Acute hepatic failure, Cirrhosis, Splenomegaly, H... |
OMIM:276700 |
Down Syndrome |
|
Double outlet right ventricle, Conductive hearing impairment, Anal atresia, Atrial septal defect,... |
OMIM:190685 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Hypoplastic toenails, Tooth agenesis, Toenail dysplasia, Alopecia, Short philt... |
ORPHA:2325 |
Costello Syndrome |
|
High palate, Sparse hair, Ventricular septal defect, Pyloric stenosis, Curly hair, Achilles tendo... |
OMIM:218040 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Sensorineural hearing impairment, Pancreatic cysts, Papillary cystadeno... |
OMIM:193300 |
Mucolipidosis Ii Alpha/Beta |
|
Diastasis recti, Wide mouth, Gingival overgrowth, Progressive alveolar ridge hypertropy, Hepatome... |
OMIM:252500 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... |
OMIM:601927 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Nail dysplasia, Narrow mouth, Oral mucosal blisters, Flexion contracture, Alopecia, Abnormal esop... |
OMIM:226600 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... |
OMIM:267700 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, C... |
ORPHA:49827 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis, Tetralogy of Fallot |
OMIM:618624 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter, Macroglossia |
OMIM:274400 |
Aromatase Deficiency |
|
Generalized hirsutism, Ambiguous genitalia, female, Type II diabetes mellitus, Tall stature, Hype... |
ORPHA:91 |
Medullary Thyroid Carcinoma |
|
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Neoplasm of the lung,... |
ORPHA:1332 |
Carney Complex, Type 1 |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Hirsutis... |
OMIM:160980 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:617992 |