Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Squamous cell carcinoma, Basal cell ... |
ORPHA:50944 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Macroglossia,... |
ORPHA:2221 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Ileu... |
ORPHA:83469 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251636 |
Congenital Macroglossia |
|
Macroglossia, Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Ovarian Cancer |
|
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair,... |
ORPHA:902 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Diarrhea 13 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... |
ORPHA:276399 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma |
ORPHA:2023 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... |
ORPHA:206484 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity |
ORPHA:88643 |
Cowden Syndrome 1 |
|
Hamartomatous polyposis, High palate, Hypothyroidism, Transitional cell carcinoma of the bladder,... |
OMIM:158350 |
Zimmermann-Laband Syndrome |
|
Large fleshy ears, High palate, Absent fingernail, Bifid uvula, Hepatomegaly, Abnormal external g... |
ORPHA:3473 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Low anterior hairline, Dental malocclusion, Breast carcinoma, Ovarian neoplasm, Narr... |
OMIM:617883 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the ear cartilage, Sarcoma |
ORPHA:66661 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morpholo... |
ORPHA:314478 |
Familial Colorectal Cancer Type X |
|
Flexion contracture, Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarc... |
ORPHA:440437 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
Acquired Ichthyosis |
|
Renal insufficiency, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma |
ORPHA:454 |
Bazex Syndrome |
|
Yellow nails, Lip hyperpigmentation, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Brain neoplasm, Metrorrhagia, Pelvic mass, Precocious pube... |
ORPHA:370348 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... |
OMIM:613752 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Emphy... |
OMIM:618913 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Diastasis recti, Cardi... |
OMIM:130650 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abdominal mass, Abnormal circulating gonadotropin concentration, ... |
ORPHA:180229 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov... |
OMIM:614350 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... |
ORPHA:1359 |
Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Lhermitte-Duclos Disease |
|
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... |
ORPHA:65285 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... |
ORPHA:137608 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-ob... |
ORPHA:1333 |
Ovarian Fibroma |
|
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... |
ORPHA:314473 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... |
OMIM:613762 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Ollier Disease |
|
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... |
ORPHA:296 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... |
ORPHA:3000 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Frasier Syndrome |
|
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... |
OMIM:136680 |
Coffin-Siris Syndrome 2 |
|
Low anterior hairline, High palate, Short philtrum, Cryptorchidism, Absent fifth toenail, Thick v... |
OMIM:614607 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Cor pulmonale, Myocardial fibrosis, Abnormal pulmonary interstit... |
ORPHA:2302 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemi... |
OMIM:246700 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Abnormal fingernail morphology, Yellow nails, B... |
ORPHA:662 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm |
OMIM:614337 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Down Syndrome |
|
Anal atresia, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Narrow mout... |
ORPHA:870 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Pulmonary cyst, Large for gestational age, Overgrowth, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, L... |
ORPHA:116 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Hypoplastic toenails, Spars... |
ORPHA:2722 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Macrotia, Cardiomegaly |
OMIM:300886 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Costello Syndrome |
|
Low-set, posteriorly rotated ears, Deep-set nails, Ventricular septal defect, Abnormal fingernail... |
ORPHA:3071 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Thick lower lip vermilion, Obesity, Bilateral sensorineural hearing impairment, Macroorchidism, M... |
OMIM:300238 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Obesity, Everted lower lip vermilion, Thick vermilion border, Macro... |
ORPHA:1193 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
Legius Syndrome |
|
Acute monocytic leukemia, Hearing impairment, Non-small cell lung carcinoma, Neurofibroma, Nephro... |
ORPHA:137605 |
Rhabdoid Tumor |
|
Renal neoplasm, Neoplasm of the central nervous system, Hematuria, Neoplasm of the liver, Sarcoma |
ORPHA:69077 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Oral mucosal blisters, Oral ulcer, Thymoma, Sarcoma |
ORPHA:63455 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Dental crowding, Camptodactyly of finger, Abnormality of the dentition, Pro... |
ORPHA:776 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Adrenocortical adenoma, ... |
ORPHA:231632 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphom... |
ORPHA:100025 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, True hermaphroditism, Nephrobla... |
OMIM:194080 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
ORPHA:254864 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
OMIM:275400 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Polycystic ovaries... |
ORPHA:284180 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Alopecia, Abnormal fingernail morphology, Malabsorption, Hypo... |
ORPHA:2930 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Tricuspid stenosis, Primary hyperc... |
ORPHA:100079 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormal oral mucosa morphology, Abnormality of the kidney, Malabsorpt... |
ORPHA:85445 |
Sialuria |
|
Smooth philtrum, Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Synophrys, Low posterior h... |
OMIM:269921 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma |
ORPHA:626 |
Liposarcoma |
|
Abnormality of the kidney, Sarcoma |
ORPHA:69078 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:613496 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Eruption failure, Multiple lipomas, Pap... |
OMIM:175100 |
Alpha-Mannosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Open bite, Splenomegaly, Dental malocclusion, Gin... |
ORPHA:61 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Hearing impairment, Splenomegaly, Senso... |
OMIM:616354 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male... |
ORPHA:90790 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Increased ... |
ORPHA:562 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Mitochondrial Myopathy, Infantile, Transient |
|
Hepatomegaly, Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased m... |
OMIM:500009 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Mus... |
OMIM:613156 |
Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Sensorineural hearing impairment, Synophrys, Widow's peak, Deep philtrum, Gingival... |
OMIM:616455 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Thick lower... |
OMIM:300354 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Synophrys, Macroorchidism, Open mouth |
OMIM:300143 |
Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios |
OMIM:615731 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... |
OMIM:300602 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Premature loss of permanent teeth, Laryngeal carcinoma, Hypospadias, External genital hypoplasia,... |
OMIM:610644 |
Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Abnormal hair morphology, Protruding ear, Neoplasm of the skin, Abno... |
ORPHA:317 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Trisomy 17P |
|
Skeletal muscle atrophy, Hypoplasia of penis, Flexion contracture, Orofacial cleft, High palate, ... |
ORPHA:261290 |
Triploidy |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal mal... |
ORPHA:3376 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Trisomy 20P |
|
Low anterior hairline, Protruding ear, Downturned corners of mouth, Coarse hair, Short philtrum, ... |
ORPHA:261318 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Central Precocious Puberty In Male |
|
Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Pituitary microadenoma, Overgrowt... |
ORPHA:649929 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Carious teeth, Breast... |
OMIM:614564 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morphology, Overfolded helix, Mi... |
ORPHA:324410 |
Megalencephaly |
|
Macroorchidism, Atrial septal defect, Long penis, Truncal obesity |
ORPHA:2477 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Thick eyebrow, Hearing impairment, Central diaphragmatic hernia, Cleft palate,... |
OMIM:614608 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Pericardial effusion, Cleft palate, Low-set ears, Polycystic kidney dysplasia, A... |
OMIM:613885 |
Transient Neonatal Diabetes Mellitus |
|
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
|
Limb joint contracture, Abnormal pinna morphology, Ankle flexion contracture, Synophrys, Elbow fl... |
ORPHA:280384 |
Autosomal Spastic Paraplegia Type 18 |
|
Hip contracture, Abnormal pinna morphology, Ankle flexion contracture, Neck joint contracture, Sy... |
ORPHA:209951 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair... |
ORPHA:79474 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Cryptorchidism, Low anterior hairline, Abnormal heart morphology, Down... |
ORPHA:369891 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
17Q11.2 Microduplication Syndrome |
|
Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Macro... |
ORPHA:139474 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Monosomy 22 |
|
Low-set, posteriorly rotated ears, Aplasia of the thymus, Open mouth, Schwannoma, Synophrys, Hepa... |
ORPHA:96123 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Squamous cell carcinoma, Basal cell carcinoma, Onych... |
OMIM:224750 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cr... |
ORPHA:3363 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Posteriorly rotated ears, Deep philtrum, Recurrent pneumonia, Hepatosplenomegaly, High palate, Lo... |
OMIM:619750 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism, High palate |
OMIM:300428 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Cleft palate, Horseshoe kidney, Abnormal liver lobulation,... |
OMIM:608022 |
Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Natal tooth, Recurrent respiratory infections, Hypospadias, Abnorma... |
OMIM:610253 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Low anterior hairline, Elbow flexion ... |
OMIM:618440 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Flexion contracture, Low anterior hairline, Coarse hair, Macrovesicular hepatic steato... |
OMIM:617303 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of the skin, ... |
ORPHA:2584 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo... |
ORPHA:1008 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog... |
ORPHA:158057 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Macrotia, Everted lower lip vermilion, Obesity |
ORPHA:85286 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Cardiomegaly, Hypoplastic toenails, Increased muscle lipid content, Knee fl... |
OMIM:608836 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, High, narrow palate, ... |
ORPHA:373 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Dilated cardiomyopathy, Macroglossia, Calf muscle hypertrophy, Muscular ... |
OMIM:616827 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Macrotia, Congenital macroorchidism, Mitral valve prolapse |
OMIM:300624 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying o... |
ORPHA:769 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great... |
OMIM:616789 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... |
OMIM:235200 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Synophrys, Renal cyst, Do... |
ORPHA:261494 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... |
OMIM:615415 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Crandall Syndrome |
|
Alopecia, Hypoplasia of penis, Brittle hair, Sensorineural hearing impairment, Fine hair, Hypogon... |
ORPHA:202 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Jaundice, Increased circulating androgen concentration, Macrogloss... |
ORPHA:79320 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... |
ORPHA:659 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Cleft upper lip, Medulloblastom... |
OMIM:109400 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,... |
ORPHA:77301 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Hypothyroidism |
ORPHA:2349 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Sparse eyelashes, Hypospadias, Sparse eyebrow, Mitral valve prolapse, B... |
OMIM:618874 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Highly arched eyebrow, Protruding tongue, Cryptorchidis... |
ORPHA:96147 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Long philtrum, Carcinoma, Nail dystrophy, Squamous cell carcinoma |
OMIM:615225 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Congenital Disorder Of Deglycosylation 2 |
|
Hamartoma of tongue, Highly arched eyebrow, Macroglossia, Microtia, High palate, Hypothalamic ham... |
OMIM:619775 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Facial hypotonia, Flexion contracture, Obesity, High palate, Macroorchidism, Male hypogonadism, M... |
OMIM:300055 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Basal cell carcinoma, Abnormality ... |
ORPHA:79405 |
Desmoid Tumor |
|
Intestinal polyposis, Intestinal obstruction, Abnormality of the upper urinary tract, Malabsorpti... |
ORPHA:873 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Open ... |
OMIM:309520 |
Apert Syndrome |
|
Delayed eruption of teeth, Esophageal atresia, Sensorineural hearing impairment, Abnormal semicir... |
ORPHA:87 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Abnormality of the kidney, Cleft upper ... |
ORPHA:168569 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... |
OMIM:616050 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Alopecia, Premature loss of teeth |
OMIM:114580 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Proteus Syndrome |
|
Decreased muscle mass, Neoplasm of the thymus, Abnormal lung lobation, Renal cyst, Neoplasm of th... |
ORPHA:744 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Brain neoplasm, Tented upper lip vermilion, Decreased response to growth... |
ORPHA:273 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
Crouzon Syndrome |
|
Dental crowding, High palate, Atresia of the external auditory canal, Conductive hearing impairme... |
OMIM:123500 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Accessory oral frenulum, Flexion contracture, Hypoplasia of teeth, Inclusion body fibro... |
ORPHA:88630 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Hypoalbuminemia |
OMIM:618805 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Adrenal hypoplasia, High, narrow palate, Aminoaciduria, High palate, Intrahepatic biliary dysgene... |
OMIM:214100 |
Tuberous Sclerosis 2 |
|
Astrocytoma, Angiofibromas, Subependymal giant-cell astrocytoma, Renal cyst, Subependymal nodules... |
OMIM:613254 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Renal hamartoma, C... |
OMIM:267000 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Cleft palate, Thic... |
OMIM:300244 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... |
ORPHA:860 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Alopecia, Recurrent urinary tract infections, Lymphoproliferative disorder, Elevate... |
OMIM:615559 |
Tuberous Sclerosis 1 |
|
Chordoma, Dental enamel pits, Astrocytoma, Precocious puberty, Ependymoma, Gingival fibromatosis,... |
OMIM:191100 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Premature loss of teeth, ... |
OMIM:618373 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Schinzel-Giedion Syndrome |
|
Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philtrum, High palate, Hepa... |
ORPHA:798 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... |
OMIM:607598 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased body weight |
OMIM:618347 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Atrial septal defect, Small scrotum, Hypospadias, Hyperconvex nail, Uret... |
OMIM:269150 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Skeletal muscle atrophy, Cutaneous T-cell lymphoma, Abnormal pleura morph... |
ORPHA:3162 |
Dermatomyositis |
|
Abnormal hair quantity, Recurrent respiratory infections, Pericarditis, Gastrointestinal stroma t... |
ORPHA:221 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Multiple lipomas, Microtia, Overgrowth, Nephroblastoma, Ovarian serous cystaden... |
ORPHA:276280 |
Fragile X Syndrome |
|
Macroorchidism, Protruding ear, Mitral valve prolapse |
ORPHA:908 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
Alg9-Cdg |
|
Villous atrophy, Abnormal lung lobation, Right ventricular dilatation, Large fleshy ears, Abnorma... |
ORPHA:79328 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia, Cleft palate |
OMIM:600331 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Se... |
ORPHA:95716 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Abnormal pinna morphology, Pancreatic fibrosis, Hypoplasia of th... |
OMIM:200995 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Alg3-Cdg |
|
Abnormal pinna morphology, Abnormality of the endocrine system, Cardiomyopathy, Macroglossia, Hig... |
ORPHA:79321 |
Familial Melanoma |
|
Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Melanoma, Neoplasm o... |
ORPHA:618 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Basal cell carcinoma, Abnormality ... |
ORPHA:79406 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia |
OMIM:256300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... |
OMIM:608840 |
Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy... |
ORPHA:85443 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Hypospadias, Macrodontia, Diabe... |
ORPHA:3242 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepato... |
OMIM:312870 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Squamous cell carcinom... |
ORPHA:79411 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Oropharyngeal squamous cell carcinoma, Pterygium of nails, Squamous cell carcinoma, ... |
OMIM:305000 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Ventricular septal defect, Large for gestational age, Sensorineural hearing im... |
OMIM:617107 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... |
OMIM:614450 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dys... |
OMIM:613091 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect, Pedal edema, Sinus bradycardia |
OMIM:126320 |
Dyskeratosis Congenita |
|
White hair, Premature graying of hair, Neoplasm, Periodontitis, Sparse hair, Hepatomegaly, Alopec... |
ORPHA:1775 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Wide mouth, Macroglossia, Disproportionate t... |
OMIM:615668 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Microglossia, Myocardial fibrosis, Dental malocclusi... |
OMIM:253250 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Rothmund-Thomson Syndrome, Type 2 |
|
Squamous cell carcinoma, Premature graying of hair, Anteriorly placed anus, High palate, Sparse h... |
OMIM:268400 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Synophrys, Downturned corners of mouth, Coarse hair, High palate, Widely spaced ... |
OMIM:618268 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Selective tooth agenesis, Neoplasm, Decreased serum estradiol, Micro... |
ORPHA:2959 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Skeletal muscle atrophy, Sparse eyelashes, Sparse eyebrow, Pulmonary fibr... |
OMIM:615704 |
Thyroid Hemiagenesis |
|
Thyroid agenesis, Macroglossia, Jaundice |
ORPHA:95719 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Deep philtrum, Knee flexion contracture, Capillary hemangioma, Microdontia, Pro... |
OMIM:619194 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Flexion contracture, Macroglossia, Cardiomyopathy, Calf muscle hypertrophy, Muscula... |
OMIM:613155 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Splenomegal... |
ORPHA:354 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Posteriorly rotated ears, Highly arched eyebrow, Cardi... |
OMIM:618143 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Soft tissue neoplasm, Vaginal neoplasm, Pelvic mass, Genital neop... |
ORPHA:2126 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Ventricular septal defect, Abnormal pinna morphology, Pulmonary artery st... |
ORPHA:75389 |
Anauxetic Dysplasia 2 |
|
Flexion contracture, Macroglossia, Hypodontia, Nail dysplasia, Small nail, Sparse hair |
OMIM:617396 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Large for gestational... |
ORPHA:500095 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Obesity |
ORPHA:3077 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Hepatic steatosis, Alopecia, Increased circulating cortisol level, Hyperal... |
ORPHA:189427 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Porphyria Cutanea Tarda |
|
Alopecia, Porphyrinuria, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis |
OMIM:176100 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Abnormal heart valve morphology, Intestinal pseudo-obstr... |
OMIM:309900 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carc... |
ORPHA:352540 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sensorineural ... |
OMIM:602540 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... |
ORPHA:276152 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... |
OMIM:145001 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Alopecia, Aganglionic megacolon, Cryptorchidism, Rena... |
ORPHA:85284 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Abnormal dental morphology, Camptodactyly of finger, Protruding ear, Everted lower lip ... |
ORPHA:2251 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... |
OMIM:160980 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormal lung morphology, Hep... |
ORPHA:464329 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidism, High, na... |
ORPHA:3051 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Abnormality of the dentition, Melanoma, Basal cell carcinoma, Squamou... |
OMIM:620040 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss... |
OMIM:617022 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Facial hypertrichosis, Dental crowding, Sensorineural hearing impairment, Deep philtrum, Hepatosp... |
ORPHA:397709 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Thick eyebrow, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Thick l... |
OMIM:252940 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplas... |
ORPHA:3055 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... |
ORPHA:93921 |
Papillon-Lefèvre Syndrome |
|
Recurrent respiratory infections, Liver abscess, Abnormal fingernail morphology, Severe periodont... |
ORPHA:678 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Alopecia, Oral mucosal blisters, Esophageal stricture, Flexio... |
OMIM:226600 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Thumb Deformity And Alopecia |
|
Solitary median maxillary central incisor, Alopecia |
OMIM:188150 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla... |
ORPHA:44890 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Weight loss |
OMIM:209950 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Peutz-Jeghers Syndrome |
|
Melanonychia, Neoplasm of the nose, Pancreatic adenocarcinoma, Intestinal obstruction, Stomach ca... |
ORPHA:2869 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal ... |
ORPHA:2325 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholangitis, Renal cyst, Widely spaced teeth, High palate, Nephronophthisis... |
OMIM:266920 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Spinal neurofibroma, Sarcoma, Abnormal... |
ORPHA:636 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... |
OMIM:252011 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Costello Syndrome |
|
High palate, Sparse hair, Atrial septal defect, Deep-set nails, Thin nail, Concave nail, Vestibul... |
OMIM:218040 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Hypospadias, Ventricular septal defect, Posteriorly rotated ears, P... |
OMIM:301040 |
Milroy Disease |
|
Hydrocele testis, Neoplasm of the skin, Toenail dysplasia, Angiosarcoma |
ORPHA:79452 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... |
OMIM:190685 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, High palate, Hepatic fibrosis, Sparse hair, Alopecia, Hamartoma of to... |
OMIM:311200 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilater... |
ORPHA:2874 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Vesicoureteral refl... |
ORPHA:453499 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Thick eyebrow, Abnormal heart valve morphology, Diastasis recti, Heparan sulfate ex... |
OMIM:253220 |
Pontocerebellar Hypoplasia, Type 9 |
|
Short upper lip, Macroglossia, Facial hypotonia, Abnormal pinna morphology |
OMIM:615809 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis |
OMIM:618624 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:99880 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Myelodysplasia, Carious teeth, Nail pits, Hepatic necrosis, Premature gray... |
OMIM:127550 |
Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Sensorineural he... |
OMIM:193300 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog... |
ORPHA:1332 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Hypoplastic toenails, Asplenia, Biliary atresia, Dextrotransposition of the great a... |
OMIM:306955 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Flexion contracture, Macrotia, Spars... |
ORPHA:2850 |
Leprechaunism |
|
Skeletal muscle atrophy, Rectal prolapse, Protruding ear, Nephrocalcinosis, Increased circulating... |
ORPHA:508 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Histiocytoma, Limb muscle weakness, Prematu... |
OMIM:112250 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1388 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Hypothyroidism, Goiter |
OMIM:274400 |
Intellectual Developmental Disorder, Autosomal Recessive 30 |
|
Macroglossia |
OMIM:614342 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Diastasis recti, Recurrent bronchitis, Cardiomegaly, Sparse eyebrow, ... |
OMIM:252500 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... |
ORPHA:99889 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Downturne... |
ORPHA:444077 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Pancreatic Cancer |
|
Neoplasm of the pancreas, Increased level of L-fucose in urine |
OMIM:260350 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar an... |
OMIM:618280 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:143 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2070 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Athyreosis |
|
Thyroid agenesis, Macroglossia, Hypothyroidism |
ORPHA:95713 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... |
ORPHA:96191 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
Meacham Syndrome |
|
Bicuspid aortic valve, Blind vagina, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventr... |
OMIM:608978 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... |
OMIM:232220 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Small scrotum, Synophrys, Protruding ear, Sparse hair, Dystrophic fingernails, Anodontia, Alopeci... |
ORPHA:3253 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Squamous cell car... |
ORPHA:79409 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Lymphocytoma cutis, Sterile... |
ORPHA:449395 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Posteriorly rotated ears, Left atrial enl... |
OMIM:300280 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Camptodactyly |
OMIM:608104 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Thin upper lip vermilion, Highly arched eyebrow, Open mouth, Cupped ear, Protruding ear, Low post... |
OMIM:156200 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Cleft upper l... |
ORPHA:33001 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios |
ORPHA:3405 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal o... |
OMIM:219080 |
Refractory Celiac Disease |
|
Hypophosphatemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:398063 |
Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Lymphoma, Thyroiditis, Nephrotic syndrome, Hypot... |
ORPHA:39041 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Alstrom Syndrome |
|
Chronic active hepatitis, Decreased response to growth hormone stimulation test, Gingivitis, Tubu... |
OMIM:203800 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Small scrotum, Hypospadias, Bilateral cleft lip, Median cleft lip, Adrenal hypoplasi... |
OMIM:612651 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Familial Isolated Restrictive Cardiomyopathy |
|
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... |
OMIM:615355 |
Hurler Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Heparan sulfate excretion in urine, Splenomegaly,... |
OMIM:607014 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar... |
ORPHA:1018 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Respiratory tract infection, Elevated circulating a... |
ORPHA:308552 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Gingival overgrowth, Tracheoesophageal fistula, Fine ... |
ORPHA:1839 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Low anterior hairline, Gingival ove... |
OMIM:248500 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Male hypogonadism, Hypo... |
OMIM:240300 |
Immunodeficiency 32B |
|
Failure to thrive, Hypoalbuminemia |
OMIM:226990 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter |
OMIM:616816 |
Leishmaniasis |
|
Hypoalbuminemia, Weight loss |
ORPHA:507 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Highly arched eyebrow, Fetal pyelectasis, Gi... |
OMIM:616900 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Hydroureter, Bicuspid aortic valve, Sparse eyelashes, Dental crowding, Delayed eruption... |
OMIM:616367 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hyp... |
ORPHA:79259 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Synophrys, Flexion contracture, Coarse hair, Aspiration pneumonia, Thickened helice... |
ORPHA:581 |
Acromegaly |
|
Dysmenorrhea, Synophrys, Wide penis, Widely spaced teeth, Pituitary prolactin cell adenoma, Abnor... |
ORPHA:963 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Multiple g... |
OMIM:175200 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Dental crowding, Bronchiectasis, Macroglossia, Joint contractur... |
OMIM:618523 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Thick eyebrow, Tented upper lip vermilion, Ventricular septal defect, De... |
ORPHA:488632 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Atrial septal defect |
ORPHA:101028 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Wild Type Abeta2M Amyloidosis |
|
Intestinal pseudo-obstruction, Abnormal tendon morphology, Macroglossia, Abnormal intestine morph... |
ORPHA:85446 |
Somatomammotropinoma |
|
Dysmenorrhea, Synophrys, Widely spaced teeth, Pituitary prolactin cell adenoma, Abnormal toenail ... |
ORPHA:314769 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... |
OMIM:615873 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Ma... |
OMIM:268800 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Tooth agenesis, M... |
ORPHA:1798 |
Gm1 Gangliosidosis Type 1 |
|
Gingival overgrowth, Hepatosplenomegaly, Cardiomyopathy, Macroglossia, Urinary glycosaminoglycan ... |
ORPHA:79255 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Alopecia, Hypospadias, Dextrocardia, Abnormal hai... |
ORPHA:2315 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Macroglossia |
|
Macroglossia |
OMIM:153630 |
Moynahan Syndrome |
|
Alopecia, Sensorineural hearing impairment, Hypogonadism, Sparse hair |
ORPHA:2574 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downtu... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downtu... |
ORPHA:352665 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Ventricular septal defect, Bilateral cr... |
OMIM:613457 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased thyroid-stimulating hormone level, Macroglossia, Hypothyroidism, Decreased circulating ... |
OMIM:275100 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Pneumonia, Anal canal squamous carcinoma, Squamous cell carcino... |
ORPHA:217390 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Proteinuria, Thick hair, Heparan sulfate excretion in urine, Fl... |
ORPHA:505248 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Alopecia, Astrocytoma, Ventricular septal defect, Peripheral pulmonary arte... |
OMIM:613001 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, External genital hypoplasia, Pneumonia, Cryptorchidis... |
ORPHA:1867 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
U-Shaped upper lip vermilion, Hypoplasia of penis, Ambiguous genitalia, Tented upper lip vermilio... |
ORPHA:847 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Edema, Pulmonary embolism, Congestive heart failure, Patent ductus a... |
ORPHA:90308 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hepatitis, Onycholysis, Abnormal intestine morphology, ... |
ORPHA:525 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Stomatitis, Chole... |
ORPHA:438274 |
Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... |
ORPHA:97261 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Exercise-induced myoglobinuria, Achilles tendon contracture, Dilated cardiomyopathy, Macroglossia... |
OMIM:607155 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Posteriorly rotated ears, Hypospadias, Supernumerary nipple, Abnormality of the dentiti... |
ORPHA:3224 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Gingival overgrowth, Ascites, Nephrotic syndrome, High ... |
OMIM:269920 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Cleft lip, C... |
ORPHA:2890 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterin... |
ORPHA:1439 |
Fucosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Flexion contracture, ... |
OMIM:230000 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Alopecia, Limb joint contracture, Hypogonadotropic hypogonadism, Carious... |
OMIM:612079 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Emphysema,... |
ORPHA:363618 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Sotos Syndrome |
|
Ureteral duplication, Astrocytoma, No permanent dentition, Flexion contracture, Neoplasm, Conduct... |
ORPHA:821 |
Hurler Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal heart valve morphology, Camptodactyly of... |
ORPHA:93473 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Cardiomyopa... |
OMIM:232500 |
Xeroderma Pigmentosum Variant |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Pulsatile tin... |
OMIM:168000 |
X-Linked Agammaglobulinemia |
|
Alopecia, Malabsorption, Sensorineural hearing impairment, Abnormal lung morphology, Recurrent pn... |
ORPHA:47 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Limb-girdle muscle weakness, Hypothyroidism, Rhabdomyolysis, Macroglossi... |
OMIM:251900 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Transposition of t... |
OMIM:314390 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Sensorineural hearing impairment, Widely spaced teeth, Conductive hearing impairment, H... |
OMIM:135100 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h... |
OMIM:269200 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Ba... |
ORPHA:79410 |
Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, Alopecia, Fair hair, External genital hypoplas... |
ORPHA:79330 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia, External ear malformat... |
ORPHA:1647 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Facial palsy, Absent eyelashes, Carious teeth, Cleft palate, Protruding... |
ORPHA:2316 |
Gapo Syndrome |
|
Delayed eruption of teeth, Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early baldin... |
ORPHA:2067 |
Xfe Progeroid Syndrome |
|
Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail... |
OMIM:610965 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Macroglossia, Tented upper lip vermilion, High palate |
OMIM:616025 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Macroglossia, Low-set ears, Camptodactyly, Ascites |
ORPHA:79325 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Recurrent respiratory infections, Urinary incontinence, Cardiomegaly, Splenomegaly,... |
OMIM:232300 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Hypogonadotropic hypogonadism, Sensorineural hearing impairment, Cleft palate, Abnormal... |
ORPHA:494 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... |
OMIM:617093 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Tuberous Sclerosis Complex |
|
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... |
ORPHA:805 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Cardiomegaly, Sparse hair, Enamel hypoplasia, Macrotia |
OMIM:613576 |
Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Microtia, Hearing impairment |
ORPHA:1914 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:615524 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Lobulated tongue, Coarse hair, High palate, Sparse hair, Alopecia, Multicystic kidn... |
ORPHA:2750 |
Retinoblastoma |
|
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of the dentition, Absent... |
OMIM:612841 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, External genital hypoplasia, Large for gestational age, Deep philtrum... |
ORPHA:96334 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia |
OMIM:602579 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Elevated urina... |
OMIM:115310 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia |
OMIM:600273 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Nephrocalcinosis, Clitoral hypoplasia, Micropenis, R... |
OMIM:268310 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hepatocellular c... |
OMIM:232200 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... |
ORPHA:247353 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome... |
OMIM:276700 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Failure to thrive, Hypoalbuminemia |
ORPHA:367 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Hypoalbuminemia |
OMIM:617021 |
Distal 22Q11.2 Microduplication Syndrome |
|
Anal atresia, Ventricular septal defect, Camptodactyly of finger, Unilateral renal agenesis, Hypo... |
ORPHA:261337 |
Necrobiosis Lipoidica |
|
Abnormality of the thyroid gland, Diabetes mellitus, Squamous cell carcinoma |
ORPHA:542592 |
Pachyonychia Congenita |
|
Natal tooth, Alopecia, Angular cheilitis, Steatocystoma multiplex, Paronychia, Onychogryposis of ... |
ORPHA:2309 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Abnormality of dental color, Hyperphosphaturia, Precocious puberty, Horseshoe kidney, B... |
OMIM:163200 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Pulsatile tinnitus, Chemodectoma, Adrenal pheochromocytoma, Glomus... |
OMIM:605373 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... |
OMIM:171400 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Flexion contracture, Triangul... |
OMIM:601675 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Posteriorly rotated ears, Underdeveloped superior crus of antihelix, A... |
ORPHA:369950 |
Alpha-Mannosidosis, Adult Form |
|
Mixed hearing impairment, Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Macroglossia |
ORPHA:309288 |
Lethal Recessive Chondrodysplasia |
|
Macroglossia |
ORPHA:1423 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma, Narrow mouth, Flexion contracture, Cheilitis, Abnormal ora... |
ORPHA:357154 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Abnormal salivary gland morphology, Nephritis, E... |
ORPHA:2298 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Splenomegaly, Thick lower lip vermilion, Recurrent upper respira... |
ORPHA:583 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... |
ORPHA:95699 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Flexion contracture, Keratoacanthoma, Squamous cell carcinoma, Basal cell c... |
OMIM:278760 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration... |
ORPHA:90673 |
Rothmund-Thomson Syndrome Type 1 |
|
Squamous cell carcinoma, Sparse hair, Microdontia, Hypothyroidism, Calcinosis, Premature ovarian ... |
ORPHA:221008 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Sparse hair, Microdontia, Bifid uvula, Hypospadias, Cleft upper lip, Sparse eyebro... |
OMIM:129400 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe... |
OMIM:613573 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Flynn-Aird Syndrome |
|
Carious teeth, Progressive sensorineural hearing impairment, Alopecia, Alopecia of scalp |
OMIM:136300 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Impotence, Xerostomia |
ORPHA:43393 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... |
ORPHA:370959 |
Tenorio Syndrome |
|
Recurrent pneumonia, Wide mouth, Macroglossia, Enuresis, Recurrent aphthous stomatitis, Hypoinsul... |
OMIM:616260 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Elevated circulating parathyroid hormone level, Pheochromocytoma, Gang... |
ORPHA:653 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurren... |
OMIM:252920 |
Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios |
ORPHA:139466 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Sensorineural hearing impairment, Myopathy, Microtia, Everted lower lip v... |
OMIM:275630 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Sensorineural hearing impairment, Elbow flexion con... |
OMIM:148210 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Hypoplastic toenails, Rectal prolapse, ... |
ORPHA:904 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Low-set ears, Splenic cyst, Enlarge... |
OMIM:618188 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Malabsorption, Protruding tongue, Bronchiectasis, Macroglossia, Low-set ears, Chronic ... |
OMIM:242860 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Joubert Syndrome 1 |
|
Highly arched eyebrow, Protruding tongue, Renal cyst, Macroglossia, Hepatic fibrosis, Low-set ear... |
OMIM:213300 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t... |
ORPHA:248 |
Rothmund-Thomson Syndrome |
|
Selective tooth agenesis, Squamous cell carcinoma, Microdontia, Sparse hair, Abnormality of the n... |
ORPHA:2909 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Cupped ear, Protruding ear, Macroglossia, Nail dystrophy, Atrial septal d... |
ORPHA:93947 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Flexion contracture, Atypical scarring of skin, Decreased circulating carni... |
ORPHA:89842 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Thick lower lip vermilion, Eleva... |
OMIM:162300 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Abnormal p... |
ORPHA:400 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Protruding ear, Macroglossia, Abnormal antihelix morphology, Everted ... |
ORPHA:261144 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... |
ORPHA:790 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... |
OMIM:129500 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Xerostomia, Primary... |
ORPHA:227990 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body weight |
ORPHA:1667 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Macrosc... |
ORPHA:251004 |
Aicardi Syndrome |
|
Cleft upper lip, Precocious puberty, Hiatus hernia, Recurrent pneumonia, Teratoma, Carcinoma, Cle... |
OMIM:304050 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celi... |
ORPHA:227982 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... |
OMIM:619167 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Carious teeth, Flexion contracture, Large fles... |
OMIM:203550 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Small scrotum, Conical tooth, Abnormality of the dentition, Cryptorchidism, Fine hair, ... |
ORPHA:228390 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Congenital diaphragmatic hernia, Papilloma, Abnormality of the nail, Alope... |
ORPHA:2092 |
Pheochromocytoma/Paraganglioma Syndrome 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Ventricular septal defect, Absent eyelashes, Cryptorchidism, Abnormalit... |
ORPHA:166035 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Paronychia, Renal cyst, Squamous cell carcin... |
ORPHA:79404 |
Rothmund-Thomson Syndrome Type 2 |
|
Squamous cell carcinoma, High palate, Sparse hair, Microdontia, Calcinosis, Abnormal dental ename... |
ORPHA:221016 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Cardiomegaly, Flexion contracture, Elevated circulating thyroid-stimulat... |
OMIM:256040 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni... |
OMIM:611812 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Oral mucosal blisters, Abnormality of the dentition, Nail dystrophy, Nail dysplasia |
ORPHA:79397 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Alopecia, Brittle hair, High palate |
ORPHA:50812 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension |
OMIM:616589 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... |
ORPHA:90791 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Ascites, Hearing impairment |
ORPHA:858 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Kury-Isidor Syndrome |
|
Alopecia, Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth... |
OMIM:619762 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Recurrent respiratory infections, Sparse eyebrow, Hypothyroidism, Fi... |
ORPHA:1882 |
Ane Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Multiple joint contractures, Hypogonadotrop... |
ORPHA:157954 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infection, Bronchiectasis, Subpleural i... |
ORPHA:79128 |
Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Abnormality of the dentit... |
ORPHA:93 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Anal atresia, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Posteriorly ro... |
ORPHA:96176 |
Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
Angelman Syndrome |
|
Protruding tongue, Obesity, Wide mouth, Macroglossia, Widely spaced teeth, Fair hair |
OMIM:105830 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Pleural effusion... |
ORPHA:69735 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia, Micropenis, Hypospadias |
OMIM:618840 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612946 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, Clitoral h... |
OMIM:180700 |
Coffin-Siris Syndrome 4 |
|
Sparse scalp hair, Everted upper lip vermilion, Thin upper lip vermilion, Ventricular septal defe... |
OMIM:614609 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Nail dy... |
OMIM:175500 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cys... |
OMIM:617100 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Monosomy 18P |
|
Alopecia, Carious teeth, Cleft palate, Low posterior hairline, Protruding ear, Abnormal antihelix... |
ORPHA:1598 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplas... |
ORPHA:84064 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Hearing impairment |
ORPHA:337 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Facial hypotonia, Nephroblas... |
ORPHA:97297 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Pulmonic stenosis, Camp... |
OMIM:179613 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology |
ORPHA:254534 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Hepatomegaly, Pneumonia, Carious teeth, Splenomegaly, Flexion contract... |
OMIM:253200 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Cleft palate |
OMIM:164180 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Failure to thrive, Small for gestational age, Elevated circulating creatine kina... |
OMIM:619055 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Cholangioc... |
ORPHA:465508 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Macroglossia, High palate, Long eyelashes, Low-set ears, Narrow mouth, ... |
ORPHA:357001 |
Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Abnormal hemidiaphragm morphology, Dextrocardia, ... |
ORPHA:185 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Horseshoe kidney, Squamous cell carcinoma, Pelvic kidney, Hearing impairment |
OMIM:613951 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Re... |
ORPHA:365 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Celiac disease, Primary adrenal i... |
ORPHA:3143 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypospadias, Supernumerary nipple, Sparse eyelashes, Absent eyelashes,... |
OMIM:106260 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate,... |
OMIM:309580 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hyperbi... |
OMIM:251880 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Sensorineural hearing impairment, Micronod... |
ORPHA:98907 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... |
OMIM:256550 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Ab... |
ORPHA:1507 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Cryptorchidism, Protruding ear, Patchy alopecia, High palate, Decreased ... |
ORPHA:85279 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Smooth philtrum, Thin upper lip vermilion, Recurrent respiratory in... |
OMIM:300534 |
Lymphangioleiomyomatosis |
|
Renal neoplasm, Abnormal urinary color, Recurrent respiratory infections, Retinal hamartoma, Rena... |
ORPHA:538 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating co... |
OMIM:615830 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelash... |
OMIM:137940 |
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb |
|
Tall stature, Hearing impairment, Neurofibroma, Abnormal heart morphology, Overgrowth, Plexiform ... |
OMIM:613675 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio... |
OMIM:617156 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Posteriorly rotated ears, Cardiomegaly, Flexion contractu... |
OMIM:616897 |
Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestib... |
ORPHA:252164 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchid... |
ORPHA:2108 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Epispadias, Abnormality of the gingiva, High, narrow palate, Downturned corn... |
ORPHA:3107 |
Coffin-Siris Syndrome |
|
Low anterior hairline, Papillary thyroid carcinoma, Aspiration pneumonia, Atrial septal defect, H... |
ORPHA:1465 |
Tyshchenko Syndrome |
|
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Microtia, Patchy alopec... |
OMIM:141300 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
OMIM:263630 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Macs Syndrome |
|
Eclabion, Irregular dentition, Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorc... |
OMIM:613075 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:401935 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Björnstad Syndrome |
|
Alopecia, Sensorineural hearing impairment, Brittle hair, Hypogonadism |
ORPHA:123 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Pulmonary hypoplasia... |
OMIM:614096 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo... |
ORPHA:97278 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Synophrys, Long eyelashes |
OMIM:619064 |
Bloom Syndrome |
|
Decreased fertility in females, Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infec... |
OMIM:210900 |
Cantu Syndrome |
|
Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Large for gestational... |
OMIM:239850 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Failure to thrive, Hypoalbuminemia |
OMIM:618329 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Thin v... |
OMIM:601853 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... |
ORPHA:97214 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena... |
ORPHA:3453 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Proteinuria, E... |
ORPHA:276621 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:1166 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, Hypocholeste... |
OMIM:212065 |
49,Xxxyy Syndrome |
|
Low-set, posteriorly rotated ears, Decreased serum testosterone concentration, External genital h... |
ORPHA:261534 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Tall stature, Intestinal polyposis, Abno... |
ORPHA:109 |
Icf Syndrome |
|
Recurrent respiratory infections, Malabsorption, Protruding tongue, Macroglossia, Low-set ears |
ORPHA:2268 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Celiac disease, Lymphoma, Thyroiditis, Type I diabetes m... |
OMIM:212750 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Sensorineural hearing impairment, Orofacial cleft |
ORPHA:79107 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Carious teeth, Abnormality of the thyroid gland, Primary adren... |
ORPHA:2047 |
Satoyoshi Syndrome |
|
Alopecia, Malabsorption, Hypoplasia of the uterus, Skeletal muscle hypertrophy, Alopecia universa... |
OMIM:600705 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... |
OMIM:617478 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Alopecia, Oral mucosal blisters, Smooth tongue, Squamous cell carci... |
ORPHA:79396 |
Gapo Syndrome |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Facial palsy, Sparse eyebrow, High, narrow palate, Thic... |
OMIM:230740 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Skeletal muscle atrophy, Dicarboxylic acidu... |
ORPHA:42 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal renal tubule morphology, Camptodactyly of finger, Premature loss of primary teeth, Abnor... |
ORPHA:2907 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:2256 |
Alpha-Mannosidosis, Infantile Form |
|
Mixed hearing impairment, Recurrent urinary tract infections, Facial hypotonia, Pneumonia, Highly... |
ORPHA:309282 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Cheilitis, Oligosacchariduria, Furrowed tongue, Macroglossia |
ORPHA:2483 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Bloom Syndrome |
|
Bronchitis, Paronychia, Neoplasm, Neoplasm of the breast, Stomach cancer, Male infertility, Prema... |
ORPHA:125 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia, Camptodactyly, Hiatus hernia |
OMIM:617729 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Elevated urinary norepinephrine level, Proteinuria |
OMIM:171420 |
Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Abnormal adipose tissue morphology, Camptodactyly, Failure to thri... |
ORPHA:79324 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape, Gingival overgrowth, Macroglossia, Abnormal urinary odor, Difficult... |
ORPHA:412217 |
Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97283 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... |
OMIM:618775 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Hypoalbuminemia, Weight loss |
OMIM:619487 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Alopecia, Cryptorchidism, Urethral stenosis, Fine hair, Premature graying of ... |
OMIM:613990 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Weight loss |
ORPHA:67 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... |
ORPHA:97282 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsati... |
ORPHA:29072 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Atrial septal ... |
OMIM:619472 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Hyperconvex fin... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Hyperconvex fin... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Hyperconvex fin... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Hyperconvex fin... |
ORPHA:881 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Adenoma sebaceum, Cavernous hemangioma |
ORPHA:2612 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Scalp-Ear-Nipple Syndrome |
|
Underdeveloped antitragus, Anteverted ears, Protruding ear, Multiple lipomas, Sparse hair, Small ... |
OMIM:181270 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... |
ORPHA:36234 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Protruding ear, High palate, Proportionate tall stature, Atrial septal defect, Abnormal dental pu... |
ORPHA:363700 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... |
ORPHA:3426 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Premature ovarian insufficiency, Hypergonad... |
OMIM:241080 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... |
ORPHA:217253 |
Adrenoleukodystrophy |
|
Alopecia, Urinary incontinence, Primary adrenal insufficiency, Impotence, Hypogonadism, Urinary b... |
OMIM:300100 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Distal amyotrophy, Hypogonadism, Oligomenorrhea, Infertility, Type II diabetes mellitus... |
ORPHA:412057 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Adams-Oliver Syndrome |
|
Alopecia, Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, ... |
ORPHA:974 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Sensorineural hearing impairment, Flexion contracture, Cleft palate |
OMIM:215100 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri... |
OMIM:614921 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis |
ORPHA:1054 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Camptodactyly of finger, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Atelectasis, Flexion cont... |
ORPHA:258 |
Meige Disease |
|
Angiosarcoma, Pleural effusion |
ORPHA:90186 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Flexion con... |
OMIM:608149 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, I... |
OMIM:618870 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:618348 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair, Abnormal heart morphology |
ORPHA:1067 |
Hypomelanosis Of Ito |
|
Alopecia, Thick lower lip vermilion, Irregularly spaced teeth |
OMIM:300337 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal dent... |
ORPHA:217085 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca... |
ORPHA:37042 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Bilater... |
ORPHA:544488 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Natal tooth, Abnormal pinna morphology, Cardiomegaly, Absent eyelashes, Cleft pal... |
ORPHA:158687 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... |
ORPHA:26793 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Otosclerosis, Abnormal heart valve morphology, Abnormal pulmonary valve morphology,... |
ORPHA:580 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect |
OMIM:616651 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio... |
OMIM:603387 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Exaggerated cupid's bow, Diastasis recti, Flexion contracture, Macroglossia, Camptodactyly, Open ... |
ORPHA:254528 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal dent... |
ORPHA:217093 |
Epidermodysplasia Verruciformis |
|
Verrucae, Squamous cell carcinoma |
ORPHA:302 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect |
OMIM:613730 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Abnormal small intestine... |
ORPHA:90291 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilic infiltration of the esophagus, Recurrent pneumon... |
OMIM:243700 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Bilateral cryptorchidism, Flexion contracture, Micropenis, Patent foramen ovale, ... |
OMIM:263650 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Joint contracture of th... |
OMIM:251300 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or abs... |
ORPHA:3130 |
Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Thick lower lip vermilion... |
OMIM:208400 |
Prune Belly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A... |
ORPHA:2970 |
Xeroderma Pigmentosum |
|
Alopecia, Abnormality of the dentition, Cryptorchidism, Sensorineural hearing impairment, Melanom... |
ORPHA:910 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen... |
OMIM:616564 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Cor pulmonale, Furrowed tongu... |
OMIM:158310 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the dentition, Abnormality of t... |
ORPHA:349 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Hypothyroidism |
ORPHA:95712 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Hypoplastic toenails, High, narrow palate, Abnormality of the gi... |
ORPHA:2753 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Sensorineural hearing impairment, Coarse hair, Hypogonadism, Ha... |
OMIM:262000 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:85202 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Patent... |
OMIM:606003 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, ... |
OMIM:201475 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:290 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:1923 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia... |
ORPHA:14 |
Pheochromocytoma |
|
Proteinuria, Elevated urinary norepinephrine level, Neoplasm, Pheochromocytoma, Renal artery sten... |
OMIM:171300 |
Glucagonoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97280 |
49,Xyyyy Syndrome |
|
Low-set, posteriorly rotated ears, External genital hypoplasia, Abnormality of the testis size, L... |
ORPHA:99330 |
King-Denborough Syndrome |
|
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... |
OMIM:619542 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly |
OMIM:301039 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia |
OMIM:619909 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa... |
OMIM:618494 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Abnormality of the kidney, Abnormality of canine, Early balding, Adenomatous ... |
ORPHA:261584 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Pericarditis, Alopecia, Myositis, Gastritis, Splenomegaly, Myocarditis, Xerostomia,... |
ORPHA:809 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Tall stature, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar musc... |
ORPHA:2463 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Protruding ear, Small nail, Low-set ears, Limb hypertonia |
OMIM:614219 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis... |
OMIM:222470 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t... |
ORPHA:3464 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Alopecia, Abnormality of the dentition, Recurrent pneumonia, Br... |
OMIM:618282 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... |
ORPHA:573 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect |
OMIM:620210 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, H... |
OMIM:226650 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Recurrent pneumonia, Oligosacchariduria, Thick vermilion border, Hearing impairment |
ORPHA:3137 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Downturned corners of mouth, ... |
ORPHA:79500 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Pallister-Killian Syndrome |
|
Small scrotum, Tented upper lip vermilion, Congenital diaphragmatic hernia, Flexion contracture, ... |
OMIM:601803 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Alopecia totalis, Renal hypoplasia/aplasia, Hypoplastic toenails, Narrow mouth,... |
ORPHA:1234 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Umbilical hernia, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly |
OMIM:235510 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures |
|
Macroglossia, High palate |
OMIM:619876 |
Anauxetic Dysplasia 1 |
|
Hip contracture, Elbow flexion contracture, Macroglossia, Hypodontia, Microdontia, Aortic valve s... |
OMIM:607095 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Elevated circulating parathy... |
ORPHA:97685 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:610338 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Increased n... |
OMIM:605275 |
Giant Cell Arteritis |
|
Glossitis, Alopecia, Pericarditis, Diabetes insipidus, Renal insufficiency, Abnormal pleura morph... |
ORPHA:397 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Alopecia, Myositis, Renal insufficiency, Proteinuria, Pericardial effusion, Oral ulce... |
ORPHA:93552 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve |
OMIM:617450 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morph... |
ORPHA:464 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Sensorineural hearing impairment, Card... |
OMIM:617713 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Camptodactyly |
OMIM:614815 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, Arthrogryposis mul... |
OMIM:208085 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect |
OMIM:615879 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... |
OMIM:618027 |
Aase-Smith Syndrome I |
|
Flexion contracture, Ventricular septal defect |
OMIM:147800 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect |
ORPHA:2345 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Loss of eyelashes,... |
OMIM:263700 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... |
ORPHA:2519 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Cleft soft palate, Intestinal malrotation, Flexion contracture, Renal hypoplasia, Downt... |
OMIM:619321 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular septal defect, Fronta... |
ORPHA:506 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-... |
ORPHA:228308 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Recurrent lower respiratory tract infections, Perimembranous ventricular septal ... |
OMIM:619170 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Oral ulcer |
OMIM:301080 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... |
OMIM:616843 |
Xeroderma Pigmentosum, Variant Type |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
Transketolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:488618 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... |
OMIM:618316 |
Emanuel Syndrome |
|
Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Pate... |
OMIM:609029 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Dental crowding, Insulin-resistant diabetes mellitus, Flexion contracture... |
OMIM:608612 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Hypogonadism, Absent axillary hai... |
ORPHA:2269 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, Nail dystr... |
OMIM:612843 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Ventricular septal defect, Camptodactyly |
OMIM:113000 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
OMIM:619657 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Hypoplasia of the thymus |
OMIM:603554 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveol... |
ORPHA:99931 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... |
OMIM:277900 |
Trichothiodystrophy |
|
Ridged nail, Brittle hair, Multiple joint contractures, High, narrow palate, Squamous cell carcin... |
ORPHA:33364 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Cleft palate, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture,... |
OMIM:613150 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Alopecia, Vaginal hernia, Ventricular septal defect, Sensorine... |
ORPHA:96129 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism, Premature loss of primary teeth, Abnormality of the dentition, Nep... |
ORPHA:93160 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:610733 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis, Decreased response to growth hormone stimulation test, Pyloric s... |
OMIM:615577 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Hyper-Igd Syndrome |
|
Splenomegaly, Oral ulcer, Hepatosplenomegaly, Renal angiomyolipoma, Elevated urine mevalonic acid... |
OMIM:260920 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Stomatitis, Proteinuria, Hepatocellular carcinoma, Chronic pan... |
OMIM:232240 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:261344 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di... |
ORPHA:477817 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Noonan Syndrome 1 |
|
Male infertility, Juvenile myelomonocytic leukemia, Atrial septal defect, Hypospadias, Ventricula... |
OMIM:163950 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Juvenile Polyposis Of Infancy |
|
Subcutaneous lipoma, Hypoalbuminemia, Cachexia |
ORPHA:79076 |
Incontinentia Pigmenti |
|
Ridged nail, Delayed eruption of teeth, Alopecia, Supernumerary nipple, Conical tooth, Nail pits,... |
OMIM:308300 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Alopecia, Abnormal dental enamel morphology, Abnormal antiheli... |
ORPHA:1005 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Alopecia, Atrophic gastritis, Recurrent pneumonia, Bronchiect... |
OMIM:616576 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Protein-losing ent... |
OMIM:619991 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... |
ORPHA:3384 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Cheilitis, Abnormality of the nail, Aplasi... |
ORPHA:129 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypomimic face |
OMIM:608572 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Abnormal dental enamel morphology, Cle... |
ORPHA:828 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Splenomegaly, Hepatic failure, Hepatospl... |
OMIM:608013 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Flexion contracture, Squamous cell carcinoma, Urinary bladder sphincter dysfu... |
ORPHA:79408 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... |
OMIM:103900 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:7 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbili... |
OMIM:613658 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft upper lip, Cleft palate, Hydrocele testis, Increased serum testosterone level, Congenital a... |
ORPHA:96181 |
Chromomycosis |
|
Abnormal lung morphology, Multiple cutaneous malignancies, Abnormal oral cavity morphology, Squam... |
ORPHA:182 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Bicuspid aortic valve, Exaggerated cupid's bow, Wide mouth, Macroglossia, High palate, Aortic val... |
OMIM:614501 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... |
ORPHA:978 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair, Abnormality of the dentition |
ORPHA:177 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Conical tooth, Bilateral cryptorchidism, Sparse eyebrow, Fine... |
OMIM:613451 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Pleural effusion, Ascites |
OMIM:614702 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Adrenal hypoplasia, Cleft upper lip, Unilateral renal agenesis, Flexion contracture, Hy... |
OMIM:308050 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... |
ORPHA:96253 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Renal agenesis, Congenital diaphragmatic hernia, Absent externa... |
OMIM:273395 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Abnormal tongue morphology, Insulin-resistant diabetes mellitus, Hyper... |
ORPHA:2457 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Everted lower lip vermilion, Nail dystrophy, Nail dysplasia, Spars... |
OMIM:242300 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Camptodactyly |
OMIM:619980 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly |
OMIM:619123 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Alopecia, Sparse scalp hair, Dental crowding, Insulin-resistant diabete... |
OMIM:248370 |
Ogden Syndrome |
|
Cardiogenic shock, Torticollis, Ventricular septal defect, Arrhythmia |
ORPHA:276432 |
Candidiasis, Familial, 8 |
|
Macroglossia, Cheilitis |
OMIM:615527 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Polyhydramnios |
OMIM:219730 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Villous atrophy, Glomerulonephritis, Ileus, Hepatitis, Type I diabetes mellitus, Hypoth... |
OMIM:304790 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Recurrent upper respiratory tract infections, Oral ulcer, Hepatosplenomegaly, Recurrent... |
ORPHA:169154 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal pinna morphology, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alop... |
ORPHA:35173 |
Kid Syndrome |
|
Sparse eyelashes, Angular cheilitis, Lip fissure, Abnormality of the dentition, Sparse eyebrow, S... |
ORPHA:477 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Peau d'orange, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614576 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Alo... |
ORPHA:293978 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... |
ORPHA:1727 |
Progressive Non-Fluent Aphasia |
|
Brain neoplasm |
ORPHA:100070 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... |
OMIM:600987 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Oligohydramnios |
ORPHA:411709 |
Trisomy 13 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis |
ORPHA:3378 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Long uvula, Diabetes mellitus, Pericardial effusion, Cryptorchidism, Tooth malposition,... |
ORPHA:536532 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... |
ORPHA:70591 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici... |
ORPHA:672 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Submucous cleft soft palate, Sparse eyebrow, Cleft hard palate, Cleft li... |
ORPHA:69085 |
Aicardi-Goutières Syndrome |
|
Enchondroma, Elevated hepatic transaminase, Myositis, Multiple joint contractures, Diabetes melli... |
ORPHA:51 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... |
ORPHA:435638 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... |
ORPHA:254346 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, External genital hypoplasia, Abnormal hair morphology, Everted lower lip ver... |
OMIM:242100 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... |
OMIM:612582 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Everted lower lip vermilion |
OMIM:242510 |
Fanconi Anemia |
|
Abnormality of the liver, Neoplasm, High palate, Abnormality of the uterus, Atrial septal defect,... |
ORPHA:84 |
Pelger-Huet Anomaly |
|
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness |
OMIM:169400 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... |
OMIM:609942 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left v... |
ORPHA:57777 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster... |
ORPHA:1517 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Facial hypotonia |
ORPHA:85194 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Emanuel Syndrome |
|
Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma... |
ORPHA:96170 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia |
OMIM:616920 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Malabsorption, Paronychia, Abnormality of the... |
ORPHA:37 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Villous atrophy, Thyroiditis, Hepatosplenomegaly, Pulmonary int... |
OMIM:606367 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Ventricular septal def... |
ORPHA:1926 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Deep philtrum, Microtia, Low-set ears, Cardiomegaly |
OMIM:613320 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Polyhydramnios, Abnormal left ventricular function, Pulmonic stenosis,... |
OMIM:301056 |
Seckel Syndrome 9 |
|
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:616777 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Ventricular septal defect, Hypospadias, Abnormal pinna morpho... |
OMIM:236680 |
Refsum Disease, Classic |
|
Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Limb muscle weakness, Abnormal re... |
OMIM:266500 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Ventricular septal defect |
ORPHA:79243 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Abnormal dental enamel morphology, Premature loss of primary teeth, Phimosis,... |
ORPHA:2908 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... |
OMIM:601186 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Splenomegaly, Sensorineural hearing impairment, Organic aciduria |
OMIM:253260 |
Short Syndrome |
|
Alopecia, Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Sen... |
ORPHA:3163 |
Sarcoidosis |
|
Abnormal lung morphology, Nephrocalcinosis, Tubulointerstitial nephritis, Emphysema, Hypothyroidi... |
ORPHA:797 |
Bathing Suit Ichthyosis |
|
Eclabion, Alopecia, Multiple joint contractures, Nail dystrophy, Sparse hair |
ORPHA:100976 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... |
ORPHA:99776 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Carious teeth, Elevated circulating parathyroid hormone level, Seconda... |
OMIM:277440 |
Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, ... |
ORPHA:391428 |
Wiedemann-Rautenstrauch Syndrome |
|
Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Hypoplasia of th... |
OMIM:264090 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... |
ORPHA:79329 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Thin upper lip vermilion, Posteriorly rotated ears, Patchy alopecia, Low-set ears, Long philtrum,... |
OMIM:617763 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Flexion contracture, Ventricular septal defect |
OMIM:617452 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Glomerulopathy, Pericarditis, Alopecia, Renal insufficiency, Cho... |
ORPHA:728 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Carious teeth, Nail dystrophy, Sparse hair, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... |
OMIM:158170 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect |
OMIM:614424 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Tooth agenesis, Cardiomyocyte... |
OMIM:605676 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Neoplasm of the skeletal system, Abnormal eyelash morphology, Visceral angiomatosis, Mu... |
ORPHA:2396 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Immunodeficiency 7 |
|
Splenomegaly, Hepatomegaly, Patchy alopecia, Recurrent respiratory infections |
OMIM:615387 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Yunis-Varon Syndrome |
|
Cardiomegaly, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Short philtrum, ... |
ORPHA:3472 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Abnormality of the dentition, Absent eyelashes, Flexion co... |
ORPHA:90153 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Contractures of the large joints, Ventricular septal defect |
ORPHA:3078 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Hydroureter, Posteriorly rotated ears, Abnormality of the kidney, Abnormality of the up... |
ORPHA:2636 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Oligohydramnios |
OMIM:620113 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Prominent antitragus, Narro... |
OMIM:245600 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... |
OMIM:300967 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve... |
OMIM:265380 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart... |
ORPHA:457279 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Camptodactyly, Atri... |
OMIM:300963 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... |
OMIM:244300 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Limb joint contracture, Ventricular septal defect |
ORPHA:505237 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
OMIM:600001 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... |
OMIM:601808 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
Myopathy With Extrapyramidal Signs |
|
Calf muscle hypertrophy, Ventricular septal defect |
OMIM:615673 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ventricular septal defect, Polyhydramnios |
OMIM:243150 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail, Hearing impairment |
ORPHA:79394 |
Leprosy |
|
Absent eyebrow, Alopecia, Skeletal muscle atrophy, Abnormality of the spleen, Testicular mass, Lo... |
ORPHA:548 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Transposition of the gr... |
OMIM:201000 |
Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Weight loss |
ORPHA:171 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Myopathy, Hypoplastic finge... |
ORPHA:257 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Microdontia, Pili torti, Trichorrhexis nodosa, Sparse latera... |
OMIM:261990 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Atrial septal defect, Truncu... |
ORPHA:2008 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:617159 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Pulmonary edema, Urinary incontinence, Cardiomegaly, Sensorineural hearing impairment, Cardiomyop... |
OMIM:105210 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
ORPHA:2255 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... |
OMIM:614653 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Oligohydramnios |
ORPHA:96201 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect |
OMIM:123700 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect |
OMIM:616449 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Left atrial enlargement, Dental crowding, Decrease... |
OMIM:614008 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:609053 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1908 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri... |
ORPHA:1335 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ascites, Ventricular septal defect, Polyhydramnios, Lymphedema |
OMIM:235255 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperconvex fingernails, Sparse hair, Abnormality of the nail, Absent eyebrow, Alopecia, Abnormal... |
ORPHA:2273 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upper lip... |
OMIM:100300 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Periungual erythema, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, Alop... |
OMIM:308205 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:616652 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Alagille Syndrome |
|
Atrial septal defect, Hypertension, Telangiectasia of the skin, Ventricular septal defect |
ORPHA:52 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypo... |
OMIM:270400 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Camptodactyly |
OMIM:617360 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... |
OMIM:614294 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger |
ORPHA:2876 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Limb muscle weakness, Increased hepati... |
OMIM:619259 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Elevated circulating parathyroid hormone level |
OMIM:600785 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hearing impairment, Cardiomegaly |
OMIM:618838 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Polyhydramnios |
OMIM:615503 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Organic aciduria |
ORPHA:79242 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia, Urinary incontinence |
OMIM:600142 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Brittle hair, Congenital diaphragmatic hernia, Anteriorly plac... |
OMIM:305600 |
Congenital Erythropoietic Porphyria |
|
Erythrodontia, Splenomegaly, Scarring alopecia of scalp, Loss of eyelashes, Red-brown urine, Squa... |
ORPHA:79277 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis |
OMIM:614114 |
Short Stature-Micrognathia Syndrome |
|
Skeletal muscle hypertrophy, Ventricular septal defect |
OMIM:617164 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... |
OMIM:613309 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle, Abnormal heart morphology |
OMIM:600901 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... |
OMIM:300257 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:619381 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... |
ORPHA:2209 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... |
OMIM:264480 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... |
ORPHA:268 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, High palate, Conductive hearing impairment, Dystrophic f... |
ORPHA:740 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300514 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Limb hypertonia |
OMIM:620306 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Sensorineural hearing impairment, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
Sotos Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s... |
OMIM:117550 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect |
OMIM:620024 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Abnormality of the dentition, Abnormal hair morphology, Nail dystrophy, Nar... |
ORPHA:90154 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... |
ORPHA:209905 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema |
OMIM:606232 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... |
ORPHA:96167 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... |
ORPHA:1329 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle, Abnormal heart morphology |
OMIM:227650 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... |
OMIM:178110 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Menorrhagia |
OMIM:617443 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Alope... |
OMIM:614594 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri... |
OMIM:300998 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal... |
OMIM:607721 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Rig... |
OMIM:617506 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Myocarditis, Splenomegaly, Oral ulcer, Abn... |
ORPHA:50918 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonary art... |
ORPHA:163956 |
Olmsted Syndrome 2 |
|
Cheilitis, Flexion contracture of digit, Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Alopecia, Phimosis, Urinary bladder inflammation, Esophageal stric... |
ORPHA:99921 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Polyhydramnios, Aortopulmonary window, Pulmonary arterial hypertension... |
OMIM:620025 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Alopecia, Ketonuria, Hyperglycinuria, Organic aciduria |
OMIM:210210 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Cariou... |
ORPHA:158668 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Abnormality of the gingiva, Gingivitis, Protruding ear, Periodontitis, Uteri... |
ORPHA:286 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:217346 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... |
ORPHA:1780 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Ventricular septal defect, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Polyhydramnios, Flexion contracture, Camptodactyly, Atrial septal defect |
OMIM:605039 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Ventricular septal... |
ORPHA:79345 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Decreased muscle mass, Ventricular septal defect, Mitral regurgitation, Congeni... |
OMIM:615582 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:222448 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma... |
OMIM:610443 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... |
ORPHA:3138 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:1692 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:612530 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Decreased muscle mass, Bicuspid aortic valve |
OMIM:130720 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Paten... |
ORPHA:464311 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Polyhydramnios, Edema, Patent ductus arteriosus, Ascites, Patent foram... |
OMIM:269860 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly |
OMIM:617602 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... |
OMIM:616894 |
C Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:211750 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Dilated cardiomyopathy, Sparse eyelashes |
OMIM:610768 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ascites, Ventricular septal defect, Polyhydramnios |
ORPHA:1655 |
Chops Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve... |
OMIM:616368 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Alopecia totalis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
Phace Association |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606519 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect |
ORPHA:251038 |
Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Alopecia, Organic aciduria, 3-hydroxyisovaleric a... |
OMIM:253270 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia |
ORPHA:268249 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Heart ... |
OMIM:614866 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis |
OMIM:263520 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Limb hypertonia |
OMIM:609460 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Ele... |
OMIM:619534 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:261236 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Atria... |
ORPHA:163979 |
Mosaic Trisomy 16 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:1708 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Abnormal T-wave, Limb h... |
ORPHA:444072 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Fetal ascites, Polyhydramnios, Patent ductus arteriosus, Hypoplastic l... |
ORPHA:141127 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios |
OMIM:600373 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:600460 |
Zellweger Syndrome |
|
Ventricular septal defect |
ORPHA:912 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Alopecia, Renal insufficiency, Urinary incontinence, Abnormality of t... |
ORPHA:3385 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Contracture of ... |
ORPHA:464738 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... |
OMIM:257920 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Microvesic... |
OMIM:618278 |
Biotinidase Deficiency |
|
Alopecia, Sensorineural hearing impairment, Organic aciduria, Limb muscle weakness, Hearing impai... |
ORPHA:79241 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Camptodactyly |
OMIM:272950 |
Juvenile Dermatomyositis |
|
Calcinosis, Alopecia, Pericarditis, Myositis, Cardiomyopathy, Pulmonary fibrosis |
ORPHA:93672 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale |
OMIM:618748 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricul... |
ORPHA:51608 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, T... |
ORPHA:261330 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Hypercalciuria, Nephrocalcinosis, Hypermagnesiuria, Abn... |
ORPHA:428 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Abnormal skin adnexa morphology, Abnormality of the kidney, Abnormality ... |
ORPHA:90289 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Abnormal heart morphology |
OMIM:227646 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary a... |
OMIM:618454 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Tricuspi... |
OMIM:164280 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Facial palsy, Polyhydramnios, Patent ductus arteriosus, Camptodactyly,... |
OMIM:300373 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventricular septal defect, Oligohydramnios |
OMIM:619229 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pinna morphology, Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Hydron... |
OMIM:302960 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr... |
ORPHA:3047 |
Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect |
OMIM:619306 |
Colchicine Poisoning |
|
Myocarditis, Alopecia, Renal insufficiency, Oliguria |
ORPHA:31824 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter... |
ORPHA:464306 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular septal... |
ORPHA:508498 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... |
OMIM:607323 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... |
ORPHA:2461 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300712 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Ventricular septal defect |
OMIM:619575 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Atrial septa... |
ORPHA:3380 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... |
OMIM:139210 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ... |
ORPHA:1519 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he... |
ORPHA:2745 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Mitral stenosis, Ventricu... |
OMIM:143095 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ... |
OMIM:274000 |
Oculodentodigital Dysplasia |
|
Arrhythmia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:2710 |
De Barsy Syndrome |
|
Patent ductus arteriosus, Decreased muscle mass, Ventricular septal defect |
ORPHA:2962 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Cardiomegaly, Recurrent pneu... |
ORPHA:980 |
Diets-Jongmans Syndrome |
|
Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:618846 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... |
OMIM:249420 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Pneumothorax, Tall stature |
ORPHA:91387 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept... |
ORPHA:96121 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contraction, Hypertens... |
OMIM:602535 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:251014 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:192430 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu... |
ORPHA:97360 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:244450 |
Systemic Lupus Erythematosus |
|
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Cheilitis, Oral ulcer, Abnormal pigmentation of t... |
ORPHA:536 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:436252 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, A... |
OMIM:117650 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly... |
ORPHA:567 |
Holoprosencephaly |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ... |
ORPHA:2162 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Cardiomegaly, Lip telangiectasia, Thick vermilion border, Tinn... |
ORPHA:79280 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... |
ORPHA:268261 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A... |
OMIM:105650 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios |
OMIM:608670 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Atrial septal de... |
ORPHA:124 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P... |
ORPHA:508488 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Jacobsen Syndrome |
|
Atrial septal defect, Flexion contracture, Ventricular septal defect |
OMIM:147791 |
Hardikar Syndrome |
|
Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an... |
OMIM:301068 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Fryns Syndrome |
|
Ventricular septal defect, Polyhydramnios, Aplasia of the left hemidiaphragm, Chylothorax, Campto... |
OMIM:229850 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Double ou... |
OMIM:300166 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am... |
OMIM:616268 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... |
OMIM:271640 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arterio... |
ORPHA:818 |
Pmm2-Cdg |
|
Multiple joint contractures, Lipodystrophy, Reduced thyroxin-binding globulin, Abnormal subcutane... |
ORPHA:79318 |
Behcet Syndrome |
|
Genital ulcers, Epididymitis, Oral ulcer, Patchy alopecia, Decreased level of D-mannose in urine |
OMIM:109650 |
Esophageal Atresia |
|
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios |
ORPHA:1199 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353281 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect |
ORPHA:1393 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis |
ORPHA:955 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Transposition of the great a... |
OMIM:256520 |
Limb Body Wall Complex |
|
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph... |
ORPHA:2369 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Transposition of the great arteries, Subvalvular ... |
OMIM:280000 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, A... |
OMIM:617140 |
Alzahrani-Kuwahara Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement |
OMIM:619268 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale |
OMIM:616975 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... |
OMIM:210710 |
Keutel Syndrome |
|
Hypertension, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Jacobsen Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart |
ORPHA:2308 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Weakness of facial musculature, Ventricular septal defect |
OMIM:619418 |
Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmati... |
OMIM:154400 |
Degcags Syndrome |
|
Tachycardia, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pulmonary arter... |
OMIM:619488 |
Chromosome 16P13.3 Duplication Syndrome |
|
Facial hypotonia, Ventricular septal defect, Small thenar eminence, Camptodactyly, Atrial septal ... |
OMIM:613458 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Lower-limb joint... |
ORPHA:459070 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:102500 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:150250 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:122470 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Mitral valve calcification, Recurrent respiratory infections, Hypoplasi... |
OMIM:182250 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
Catel-Manzke Syndrome |
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Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly |
OMIM:616145 |
Rubinstein-Taybi Syndrome 1 |
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Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Flexion contracture, Mitral ... |
OMIM:180849 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hip contracture, Ventricular septal defect, Mitral atresia, Portal hypertension, Fetal ascites, M... |
OMIM:619503 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:438213 |
Trichotillomania |
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Alopecia |
OMIM:613229 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353277 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... |
OMIM:301044 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed... |
OMIM:619475 |
Chromosome 13Q14 Deletion Syndrome |
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Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
Femoral-Facial Syndrome |
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Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Penile Agenesis |
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Atrial septal defect, Ventricular septal defect, Oligohydramnios |
ORPHA:49 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ... |
OMIM:607872 |
Renpenning Syndrome 1 |
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Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep... |
OMIM:309500 |
Omodysplasia 1 |
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Atrial septal defect, Ventricular septal defect |
OMIM:258315 |
Craniotubular Dysplasia, Ikegawa Type |
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Ventricular septal defect |
OMIM:619727 |
Sympathetic Ophthalmia |
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Alopecia, Tinnitus, Poliosis, Hearing impairment |
ORPHA:79098 |
Mowat-Wilson Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Generalized muscle hypertrophy, Abnormal hea... |
OMIM:235730 |
Early Infantile Epileptic Encephalopathy |
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Ventricular septal defect |
ORPHA:1934 |
Alagille Syndrome 1 |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:118450 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Flexion contracture, Mitra... |
OMIM:194050 |
Ulnar-Mammary Syndrome |
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Elbow flexion contracture, Arrhythmia, Ventricular septal defect |
OMIM:181450 |
Osteoporosis-Pseudoglioma Syndrome |
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Ventricular septal defect |
OMIM:259770 |
Charge Syndrome |
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Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... |
OMIM:214800 |
Vater/Vacterl Association |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... |
OMIM:192350 |
Orofaciodigital Syndrome Type 14 |
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Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Johanson-Blizzard Syndrome |
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Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A... |
OMIM:243800 |
Orofaciodigital Syndrome Xiv |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615948 |
Proboscis Lateralis |
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Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Lower-limb joint contracture, Ventricular septal defect |
ORPHA:513456 |
Genitopatellar Syndrome |
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Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept... |
OMIM:606170 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:619525 |
Peters-Plus Syndrome |
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Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Pulmonic st... |
OMIM:261540 |
Coffin-Siris Syndrome 1 |
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Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept... |
OMIM:135900 |
Cornelia De Lange Syndrome |
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Atrial septal defect, Increased nuchal translucency, Ventricular septal defect, Congenital diaphr... |
ORPHA:199 |
Digeorge Syndrome |
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Patent ductus arteriosus, Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:188400 |
Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Decreased muscle mass, Ventricular septal defect |
OMIM:194190 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619522 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardiomyopathy, Pulmona... |
OMIM:216340 |
Roberts-Sc Phocomelia Syndrome |
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Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Patent ductus arteriosus, E... |
OMIM:268300 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:147920 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect |
OMIM:620330 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Patent duc... |
ORPHA:261552 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
Craniofacial Microsomia 1 |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial mu... |
OMIM:164210 |