| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Sensorineural hearing impairment, Anemia |
ORPHA:294 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... |
OMIM:600791 |
| Pendred Syndrome |
|
Hyperparathyroidism, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hyp... |
ORPHA:705 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Brooke-Spiegler Syndrome |
|
Facial palsy, Salivary gland neoplasm, Abnormality of the auditory canal, Abnormality of the subl... |
ORPHA:79493 |
| Hernández-Aguirre Negrete Syndrome |
|
Low-set, posteriorly rotated ears, Deep philtrum, Bulbous nose, Obesity, Wide mouth, EEG abnormal... |
ORPHA:2139 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Sensorineural hearing impairment, Abnormal salivary gland morphology |
ORPHA:3225 |
| Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Cardiac amyloidosis, Chronic kidney disease, Abnormality of the tongue, A... |
ORPHA:314652 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Goiter... |
OMIM:274300 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Branchiootorenal Syndrome 1 |
|
High palate, Vesicoureteral reflux, Conductive hearing impairment, Microdontia, Bifid uvula, Faci... |
OMIM:113650 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Pericardial effusion, Short nose, Depressed nasal ridge, Cleft palate, Polycysti... |
OMIM:613885 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Abnormality of the musculature of the limbs, Sensorineural hearing impairmen... |
ORPHA:3327 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity, Underdeveloped nasal alae |
OMIM:300872 |
| Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter, Hearing impairment |
OMIM:228355 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypodontia, Hypertrophic cardiomyopathy, Obesity, Hearing impairment |
OMIM:620270 |
| Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... |
OMIM:619902 |
| 11P15.4 Microduplication Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Obesity, Increased overbite, Long philtrum, Macrotia,... |
ORPHA:300305 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, Nephritis, Thrombocytopenia, Goiter |
OMIM:274240 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ... |
OMIM:303110 |
| Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Facial palsy, Hearing abnormality, Vertigo, Abnormality of... |
ORPHA:252164 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Obesity, Renal cyst, Stage 5 chronic kidney disease, Hypogon... |
OMIM:615993 |
| Deafness, Autosomal Recessive 49 |
|
Prelingual sensorineural hearing impairment |
OMIM:610153 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Depressed nasal bridge, Thyroid defect in oxidation and orga... |
ORPHA:95716 |
| Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Partial atrioventricular ca... |
OMIM:615996 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Hearing impairment, Situs inversus totalis, Chronic rhinitis, Hypothyroidism, Goiter |
OMIM:617577 |
| Ravine Syndrome |
|
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials, Atrophy/Degenerati... |
ORPHA:99852 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, N... |
OMIM:615285 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d... |
ORPHA:52368 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Jaundice, Aminoaciduria, Galactosur... |
OMIM:230350 |
| Al Amyloidosis |
|
Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, He... |
ORPHA:85443 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Malabsorpt... |
ORPHA:85445 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
| Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Broad nasal tip... |
OMIM:300148 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Unilateral cryptorchidism, Optic nerve hypoplasia, Abnormal pulmonary v... |
ORPHA:137634 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fiber diamete... |
OMIM:125250 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Hig... |
OMIM:608836 |
| Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Sensorin... |
ORPHA:93476 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, High palate, Obesity, Low-set ears |
OMIM:300209 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Bulbous nose, Thick lower lip vermilion, Obesity, Bilateral sensorineural hearing impairment, Mac... |
OMIM:300238 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Obes... |
OMIM:617752 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Macrotia, Obesity |
OMIM:300803 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Leukopenia, Macrovesicular hepatic steatosis, Neutropenia, Atrial septal def... |
OMIM:617303 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Abnormality of the kidney, Broad nasal tip, Overweight, Recurrent upper respir... |
ORPHA:391372 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thromboc... |
ORPHA:858 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Anteverted nares, Depressed nasal bridge, Large for gestational age, Overgrowth, Nephroblastoma, ... |
OMIM:618272 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Cerebellar atrophy, Hepatomegaly, Delayed eruption of teeth, Dental crowding, Anteverted nares, S... |
OMIM:616354 |
| Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Sens... |
ORPHA:2377 |
| Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Cryptorchidism, Obesity, Downturned corners of mouth, EEG... |
ORPHA:85282 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Anteverted nares, Sensorineural hearing impairment, Optic atrophy, Hyperinsu... |
ORPHA:791 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplas... |
ORPHA:3055 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Limb-girdle muscle weakness, Sensorineura... |
ORPHA:1215 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Hypoplasia of th... |
OMIM:200995 |
| Kimura Disease |
|
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
| Smith-Magenis Syndrome |
|
Everted upper lip vermilion, Abnormality of the dentition, Abnormality of the thyroid gland, Velo... |
OMIM:182290 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, Obesity |
OMIM:300577 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
| Atkin-Flaitz Syndrome |
|
Anteverted nares, Abnormality of the dentition, Broad nasal tip, Obesity, Everted lower lip vermi... |
ORPHA:1193 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Bulbous nose... |
ORPHA:480907 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology, Papillary renal ce... |
ORPHA:97290 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Wide nose, Posteriorly rotated ears, Overweight, Wide nasal bridge, Long philtrum, Open mouth, Ta... |
OMIM:615032 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Anteverted nares, Abnormality of the ureter, Obesity, EEG abno... |
ORPHA:1035 |
| Temple Syndrome |
|
Wide nose, Posteriorly rotated ears, Small for gestational age, Maturity-onset diabetes of the yo... |
OMIM:616222 |
| Arthrogryposis, Distal, Type 2A |
|
Dental crowding, Knee flexion contracture, High palate, Wrist flexion contracture, Pursed lips, C... |
OMIM:193700 |
| 15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Microphal... |
ORPHA:94065 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpholo... |
ORPHA:319487 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Depressed nasal bridge, Nephroblastomatosis, Depressed nasal ridge, Horseshoe k... |
OMIM:608022 |
| Acromegaloid Facial Appearance Syndrome |
|
Bulbous nose, Thick nasal alae, Large for gestational age |
OMIM:102150 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger,... |
ORPHA:3047 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Hypospadias, Atr... |
ORPHA:209905 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral cryptorchidism, Sensor... |
OMIM:618652 |
| H Syndrome |
|
Histiocytosis, Diabetes mellitus, Abnormality of the kidney, Cleft upper lip, Malabsorption, Recu... |
ORPHA:168569 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hyper... |
OMIM:203800 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Nephroblastoma, Hepatoblastoma, Cardiomegaly, Diastasis ... |
OMIM:130650 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Goiter, Thyroiditis, Furrowed tongue, Hydrocele testis, Ova... |
OMIM:615108 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, L... |
ORPHA:116 |
| Alg9-Cdg |
|
Villous atrophy, Large fleshy ears, Right ventricular dilatation, Abnormal left ventricular outfl... |
ORPHA:79328 |
| 7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the cochlea... |
ORPHA:251061 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Abnormal intestine morphology... |
ORPHA:397596 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Abnormal pinna morphology, Obesity, Wide nasal bridge, Congenital hypot... |
ORPHA:352530 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Anteverted nares, Broad nasal tip, Cryptorchidism, Recurrent upper respiratory tract infections, ... |
ORPHA:589905 |
| Trisomy 10P |
|
Decreased muscle mass, Abnormality of the ear, Orofacial cleft, EEG with focal spikes, High palat... |
ORPHA:171929 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Renal agenesis, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Obesity, C... |
ORPHA:171839 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Median cleft palate, Large for gestational age |
ORPHA:2432 |
| Rafiq Syndrome |
|
Thin upper lip vermilion, Wide nose, Prominent nose, Bulbous nose, Flexion contracture, Obesity, ... |
OMIM:614202 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Wide nose, Posteriorly rotated ears, Anteverted nares, Cryptorchidism, Obesity, Wid... |
OMIM:619185 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Hepatomegaly, Wide nose, Atrial septal defect, Cardiomegaly,... |
ORPHA:79330 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Anteverted nares, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival over... |
OMIM:269920 |
| Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Increased ... |
ORPHA:562 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Goiter, Thyroiditis, Furrowed tongue, Hydrocele testis, Ova... |
OMIM:615109 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Cryptorchidism, Obesity, Large earlobe, Thin vermilion border, High palate, Sho... |
OMIM:617991 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
| Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidn... |
ORPHA:110 |
| Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... |
ORPHA:64744 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Irregular dentition, Depressed nasal bridge, Abnormal audi... |
OMIM:619260 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:604292 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Situs inversus t... |
OMIM:615415 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Hypoplasia... |
ORPHA:66661 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper res... |
OMIM:252920 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Small for gestational age, Anteverted nares, Asymmetry of the ears, Prominent n... |
OMIM:617796 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile duct morpholo... |
ORPHA:731 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Macrotia, Cardiomegaly |
OMIM:613576 |
| Trisomy 5P |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Obesity, Protruding ear |
ORPHA:1742 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| Down Syndrome |
|
Depressed nasal ridge, Downturned corners of mouth, Conductive hearing impairment, Microdontia, H... |
ORPHA:870 |
| Transaldolase Deficiency |
|
Deep philtrum, Short philtrum, Hepatic fibrosis, Atrial septal defect, Patent foramen ovale, Hepa... |
OMIM:606003 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Low-frequency sensorineural hearing impairment, Recurrent upper respiratory tract i... |
OMIM:613101 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Thin upper lip vermilion, Depressed nasal bridge, Prominent nose, Carious teeth, Bulbous nose, Ob... |
OMIM:620191 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Wide nose, Posteriorly rotated ears, Elev... |
OMIM:300280 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
| Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Abnormal dental enamel morphology, Cachexia, Abn... |
ORPHA:1133 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Tongue atrophy, Skeletal muscle atrophy... |
ORPHA:101085 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Obesity, EEG abnormality, Delayed puberty, Micropenis, Macrotia |
OMIM:301900 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Depressed nasal bridge, Large for gestational age, Elevated circulating thyroid-stimulating hormo... |
ORPHA:226313 |
| Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Tented upper lip vermilion, Abnormal pinna morphology, Obesity, Thickened helices, Microdontia, T... |
ORPHA:85325 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Goiter, Thyroiditis, Furrowed tongue, Hydrocele testis, Ova... |
OMIM:158350 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:129900 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Weight los... |
ORPHA:79078 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide... |
OMIM:154500 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... |
OMIM:256550 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Everted upper lip vermilion, Wide nose, Anteverted nares, Obesity, Wide mouth, Microtia, Widely s... |
OMIM:619056 |
| Lacrimoauriculodentodigital Syndrome |
|
Xerostomia, Orofacial cleft, Vesicoureteral reflux, Conductive hearing impairment, Microdontia, A... |
ORPHA:2363 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Thin upper lip vermilion, Abnormal auditory evoked potentials, High palate, Lo... |
OMIM:617523 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Anteverted nares, Abnormality of the endocrine system, Cryptorchidism, Sensorineural hearing impa... |
ORPHA:464288 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Renal agenesis, Cryptorchidism, Splenomegaly, Elbow flex... |
OMIM:618440 |
| Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Anteverted nares, Depressed nasal bridge, Unilateral renal agenesis, Wide na... |
OMIM:618188 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Depressed nasal bridge, Penile freckling, Large for gestational age, Splenomegaly, ... |
OMIM:605309 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... |
OMIM:615873 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Vertigo, Oligosacchariduria, Thick vermilion border, Cerebral cortical atrophy, Hea... |
ORPHA:3137 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... |
ORPHA:500095 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Absent brainstem auditory responses, Failure to thrive, Hepatomega... |
ORPHA:90321 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma... |
OMIM:275000 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Hypothyroidism, H... |
ORPHA:254892 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Low-set, posteriorly rotated ears, Precocious puberty, Obesity, Abnormal heart morphology, Downtu... |
ORPHA:254525 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gland morphology, ... |
ORPHA:2298 |
| Microtriplication 11Q24.1 |
|
Attached earlobe, Wide nose, Posteriorly rotated ears, Obesity, Cleft palate, Irregularly spaced ... |
ORPHA:289522 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Downturned corners of mouth, Choanal stenosis, Severe sensorineural hearing impairment, Conductiv... |
OMIM:620186 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Small for gestational age, Anteverted nares, Maturity-onset diabetes of the young, Dep... |
ORPHA:96184 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Macrotia, Cardiomegaly |
OMIM:300886 |
| Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Wide mouth, Mucopolysacchariduria, ... |
ORPHA:93474 |
| 19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Hepatic steatosis, Atrial septal defect, Hypospadias, Anteverted nares, Vent... |
ORPHA:254346 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Optic atrophy, Obesity, Hearing impairment |
OMIM:614651 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Atrial septal defect, Posterior heli... |
OMIM:312870 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Cardiomegaly, Protruding tongue, Bulbous nose, Ab... |
ORPHA:324410 |
| Bangstad Syndrome |
|
Pancytopenia, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
OMIM:210740 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Wide nose, Skeletal muscle atrophy, Rectal prolapse, Long penis, ... |
ORPHA:508 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight... |
ORPHA:890 |
| 6Q16 Microdeletion Syndrome |
|
Abnormal ear morphology, Anteverted nares, Depressed nasal bridge, Bulbous nose, Obesity, Microti... |
ORPHA:171829 |
| Apert Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Convex nasal ridge, Esophagea... |
ORPHA:87 |
| Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Hearing impairment, Carious teeth, Pierre-Robin sequence, Obesity, Cleft palate,... |
OMIM:618363 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Cholangitis, Eosinophilia, Abnormality of the thy... |
ORPHA:449432 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Large for gestational age, Widely spaced teeth, Protruding ear |
OMIM:616116 |
| Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the dentition, Abnormality of t... |
ORPHA:349 |
| Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Depressed nasal bridge, Tall stature, Large for gestational age |
OMIM:617757 |
| Sotos Syndrome |
|
High, narrow palate, Increased body weight, High palate, Otitis media, Atrial septal defect, Cond... |
OMIM:117550 |
| Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity |
OMIM:615981 |
| 13Q12.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Cryptorchid... |
ORPHA:412035 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Ureteral stenosis, Hydroureter, Anteverted nares, Depressed nasal bridge, Lar... |
OMIM:615398 |
| Summitt Syndrome |
|
Wide nose, Camptodactyly of finger, Depressed nasal ridge, Obesity, Tall stature |
ORPHA:3210 |
| Bardet-Biedl Syndrome 7 |
|
Depressed nasal bridge, Obesity |
OMIM:615984 |
| Ascher Syndrome |
|
Wide nose, Abnormal upper lip morphology, High palate, Hypothyroidism, Goiter |
ORPHA:1253 |
| Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Thyroto... |
ORPHA:525731 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Adrenal hypoplasia, Cryptorchidi... |
OMIM:612651 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| X-Linked Intellectual Disability, Shashi Type |
|
Bulbous nose, Obesity, Everted lower lip vermilion, Macroorchidism, Macrotia |
ORPHA:85286 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Biliary tract abnormality, Obesity, Membrano... |
ORPHA:3191 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Obesity... |
ORPHA:251004 |
| Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
EEG abnormality, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Idiopathic Intracranial Hypertension |
|
Papilledema, Pulsatile tinnitus, Vertigo, Obesity, Focal sensory seizure with olfactory features |
ORPHA:238624 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
| Perlman Syndrome |
|
Everted upper lip vermilion, Nephrogenic rest, Tented upper lip vermilion, Renal hamartoma, Dista... |
OMIM:267000 |
| Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Conotruncal defect, Downturned corners of mouth, Subcortical cerebral atroph... |
ORPHA:96147 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Sensorineural hearing impairment, Micronodular cirrh... |
ORPHA:98907 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
| Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairm... |
ORPHA:3085 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Obesity |
OMIM:611936 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the philtrum, Prominent nasal bridge, Camptodactyly of finger... |
ORPHA:3409 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Leukopenia, Atrial septal defect, Patent foramen ovale, Hepatosplenomegaly, ... |
ORPHA:505248 |
| Radio-Tartaglia Syndrome |
|
Dental crowding, High, narrow palate, High palate, Short philtrum, Conductive hearing impairment,... |
OMIM:619312 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Absence of a... |
OMIM:619737 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Glossoptosis, Hypoplasia of the thymus, High palate, Conductive hearing impa... |
ORPHA:861 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Narrow mouth, Obesity, Narrow palate, Hypoplasia of teeth, Wide mouth, Wide nasal bridge, Microti... |
OMIM:620250 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Diastasis recti, Cardiomegaly, Splenomega... |
OMIM:252500 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
| Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Abnormal skeletal muscle morphology, Ana... |
ORPHA:142 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Urinary incontinence, Puberty and gonadal diso... |
ORPHA:464282 |
| Mucopolysaccharidosis Type 6 |
|
Thick nasal alae, Abnormal heart valve morphology, Splenomegaly, Thick lower lip vermilion, Recur... |
ORPHA:583 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Posteriorly rotated ears, Cleft lip, Narrow mouth, Obesity, Cleft palate, Downturned corners of m... |
OMIM:618089 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome... |
OMIM:276700 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridge, Prominent nose, Bulb... |
ORPHA:2180 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Broad nasal tip, Overweight, Moderate hearing impairment, Upper limb mu... |
ORPHA:370010 |
| Smith-Magenis Syndrome |
|
Tented upper lip vermilion, Short philtrum, Conductive hearing impairment, Chronic otitis media, ... |
ORPHA:819 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hyp... |
ORPHA:79259 |
| Distal Triplication 15Q |
|
Atrial septal defect, Abnormality of the kidney, Large for gestational age, Birth length greater ... |
ORPHA:314588 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Renal cyst, Hepatic fibrosis, Pan... |
OMIM:610199 |
| Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Otitis... |
OMIM:606763 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Chromosome 2Q37 Deletion Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Sensorineural hearing impai... |
OMIM:600430 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Cardiomyopathy, Abnormal autonomic nervous system physiology, Nephropa... |
ORPHA:85447 |
| Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Natal tooth, Abnormal pinna morphology, Hypospadias, Anteverted nar... |
OMIM:610253 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system,... |
ORPHA:464329 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... |
ORPHA:1435 |
| Chops Syndrome |
|
Anteverted nares, Ventricular septal defect, Cryptorchidism, Splenomegaly, High, narrow palate, O... |
OMIM:616368 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Large fleshy ea... |
OMIM:614080 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Absent extraocular muscles, Abnormal auditory evoked potentials |
OMIM:109120 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ... |
OMIM:181000 |
| Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Wide nose, Maturity-onset diabetes of the young, Precocious puberty, Obesity, High palate, Short ... |
ORPHA:254531 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Th... |
OMIM:608624 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, EEG with burst suppression, Sensorineu... |
OMIM:617713 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... |
ORPHA:3240 |
| Primary Ciliary Dyskinesia |
|
Nasal polyposis, Atrial situs ambiguous, Intestinal malrotation, Abnormal atrial arrangement, Asp... |
ORPHA:244 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Hydrocele testis, Microtia, Overgrowth, Nephroblastoma, Ovar... |
ORPHA:276280 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Posteriorly rotated ears, Small for gestational age, Hypospadias, Cardiomegaly, Anteverted nares,... |
OMIM:616897 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Anosmia, Obesity |
OMIM:617885 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
| Carpenter Syndrome 1 |
|
High palate, Atrial septal defect, Conductive hearing impairment, Depressed nasal bridge, Persist... |
OMIM:201000 |
| Refsum Disease, Classic |
|
Cardiomegaly, Sensorineural hearing impairment, Anosmia, Cardiomyopathy, Limb muscle weakness, Ab... |
OMIM:266500 |
| Cockayne Syndrome A |
|
Prominent nose, Micropenis, Hepatomegaly, Cryptorchidism, Hypoplasia of teeth, Cerebellar atrophy... |
OMIM:216400 |
| Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Hypoplasia of penis, Optic nerve hypoplasia, Maternal diabetes, Anterior p... |
ORPHA:3157 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide nasal base, Wide nasal bridge, Obesity |
OMIM:616521 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Increased T3/T4 ratio, Increased body weigh... |
OMIM:614450 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Thin upper lip vermilion, Prominent crus of helix, Obesity, Abnormality of superior crus of antih... |
OMIM:301013 |
| Distal Deletion 10Q |
|
Prominent nose, Functional abnormality of the bladder, Protruding ear, High palate, Vesicouretera... |
ORPHA:96148 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephroblastoma, Thyroid nodule,... |
OMIM:180295 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Cardiomegaly, Anemia, Hearing impairment |
OMIM:618838 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the kidney, Uplifted earlobe, Large for gestational age, Precocious p... |
ORPHA:261652 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co... |
ORPHA:261494 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Tented upper lip vermilion, Abnormality of the kidney, Nephrolithiasis, Wide nasal bridge, Congen... |
ORPHA:521445 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Dystonia, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Spastic Paraplegia 51, Autosomal Recessive |
|
Cerebellar atrophy, Decreased muscle mass, Facial hypotonia, Overweight, Long nose, Bulbous nose,... |
OMIM:613744 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Prolonged neonata... |
ORPHA:95715 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Atrial septal defect, Posteriorly rotated ears, Depressed nasal bridge, Ven... |
OMIM:610733 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Abnormality of the kidney, Prominent nose, Obesity, High palate, Hypoplastic left heart, Polysple... |
OMIM:610543 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Large for gestational age, Cryptorchidism, Low-s... |
OMIM:615355 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Obesity |
OMIM:615985 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, External ear malformation, ... |
ORPHA:251071 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Orofacial cleft, Protruding ear, High palat... |
ORPHA:2322 |
| Cowden Syndrome |
|
Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the kidney, Enlarged poly... |
ORPHA:201 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Oti... |
OMIM:612541 |
| Cockayne Syndrome B |
|
Micropenis, Hepatomegaly, Cryptorchidism, Hypoplasia of teeth, Renal insufficiency, Abnormal audi... |
OMIM:133540 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Anterior open-bite malocclusion, Abnormal autonomic nervous system physiology, Hypo... |
ORPHA:83601 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Depressed nasal b... |
OMIM:618430 |
| Wagr Syndrome |
|
Hearing abnormality, Cryptorchidism, Obesity, Everted lower lip vermilion, Displacement of the ur... |
ORPHA:893 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Transposition of t... |
OMIM:314390 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Wide nose, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomeg... |
ORPHA:2463 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Microvesicular hepatic steatosis, Flexion contracture, Knee flexion co... |
OMIM:300868 |
| Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegal... |
ORPHA:90340 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, High, narrow palate, Renal cyst, Nephrocalcinosis, Downturned corners... |
ORPHA:369837 |
| Immunodeficiency 61 |
|
Malabsorption, Obesity, Colon cancer, Recurrent sinusitis, Recurrent otitis media |
OMIM:300310 |
| 3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Obesity, Cleft palate, Wi... |
ORPHA:251038 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Hepatomegaly, Thin upper lip vermilion, Macrodontia, Anteverted nares, Promin... |
OMIM:618443 |
| Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal pulmonar... |
ORPHA:648 |
| Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
| Noonan Syndrome 5 |
|
Atrial septal defect, Depressed nasal bridge, Large for gestational age, Cryptorchidism, Wide mou... |
OMIM:611553 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hyposmia, Anosmia, Obesity |
OMIM:610628 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... |
ORPHA:905 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly, Protruding ear, EEG abnormality, High ... |
OMIM:618798 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Cardiomegaly... |
OMIM:608013 |
| Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Abnormality of the kidney, Abnormality of infra-orbital ... |
ORPHA:449563 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Hand muscle... |
ORPHA:98908 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Hepatomegaly, Multiple joint contractures, Posteriorly rotated ears, Cardiome... |
OMIM:618143 |
| Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Hypothyroidism, Goiter |
OMIM:274400 |
| Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate c... |
ORPHA:31 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
| Leptin Deficiency Or Dysfunction |
|
Recurrent upper respiratory tract infections, Obesity |
OMIM:614962 |
| Cantu Syndrome |
|
Anteverted nares, Depressed nasal bridge, Bicuspid aortic valve, Cardiomegaly, Large for gestatio... |
OMIM:239850 |
| Momo Syndrome |
|
Smooth philtrum, Delayed eruption of teeth, Underfolded helix, Large for gestational age, Abnorma... |
ORPHA:2563 |
| Mend Syndrome |
|
Prominent nasal bridge, Abnormal auditory evoked potentials, Asymmetry of the mouth, Cryptorchidi... |
ORPHA:401973 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy, ... |
ORPHA:1332 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... |
ORPHA:486815 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Sple... |
OMIM:602450 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Abnormality of the philtrum, Cryptorchidism, Flexion contracture, O... |
OMIM:615547 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Elevated circulating alanine aminotransferase conce... |
ORPHA:308552 |
| White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Downturned corners of mouth, Subcortical cerebral atrophy, High ... |
ORPHA:468678 |
| White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, High palate, Atrial... |
OMIM:616364 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hepatocellular c... |
OMIM:232200 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia... |
ORPHA:261197 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Obesity, Orofacial... |
OMIM:615630 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss... |
OMIM:617022 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Atrial septal defect, Patent foramen ovale, Hearing impairment |
OMIM:620327 |
| Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Situs inversus totalis, Chronic rhinitis, Chronic otitis media, Abdominal situs ... |
OMIM:617092 |
| Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Aganglionic megacolon, Abnormality of the kidney, D... |
OMIM:209900 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn... |
OMIM:611584 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Th... |
OMIM:162300 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... |
ORPHA:652 |
| Charge Syndrome |
|
Hypoplasia of the semicircular canal, Vesicoureteral reflux, Micropenis, Low-set, posteriorly rot... |
ORPHA:138 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
| Monosomy 13Q34 |
|
Posteriorly rotated ears, Epistaxis, Prominent nasal bridge, Prominent nose, Broad nasal tip, Fet... |
ORPHA:96168 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Depressed nasal bridge, Decreased... |
ORPHA:90674 |
| Insulinoma |
|
Hearing abnormality, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary... |
ORPHA:97279 |
| Distal Deletion 12Q |
|
Ectopic kidney, High, narrow palate, Biliary atresia, Proportionate tall stature, Vesicoureteral ... |
ORPHA:96149 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Und... |
ORPHA:1001 |
| Fucosidosis |
|
Hepatomegaly, Wide nose, Depressed nasal bridge, Cardiomegaly, Splenomegaly, Thick lower lip verm... |
OMIM:230000 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the d... |
ORPHA:193 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adre... |
ORPHA:2166 |
| Pde4D Haploinsufficiency Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Hypospadias, Abnormal dental enamel morpholog... |
ORPHA:439822 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... |
ORPHA:529808 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Asplenia, Absent outer dynein arms, Situs inversus totalis, Anosmia, Chronic rhi... |
OMIM:244400 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Muscular dystrophy, Obesity |
ORPHA:459033 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... |
ORPHA:529799 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Rhabdomyolysis, Goiter |
OMIM:188580 |
| Glutaric Aciduria Iii |
|
Glutaric aciduria, Failure to thrive, Hyperthyroidism, Goiter |
OMIM:231690 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Hypertro... |
OMIM:615418 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Overweight, High palate, Micropenis, Macro... |
ORPHA:457240 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri... |
OMIM:614921 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner... |
ORPHA:206436 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Posteriorly rotated ears, Depressed nasal bridge, Broad na... |
OMIM:619680 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
| Melioidosis |
|
Liver abscess, Abnormality of the spleen, Hepatitis, Abnormal parotid gland morphology, Splenic a... |
ORPHA:31202 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Abnormality of the kidney, Renal agenesis, Proteinuria, Prominent nasal br... |
ORPHA:261222 |
| Blepharochalasis And Double Lip |
|
Duplication of the upper lip, Goiter |
OMIM:109900 |
| Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent outer dy... |
OMIM:616037 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Situs inversus totalis, Absent inner and outer dynein arms, Rhinitis, Recurrent ... |
OMIM:614935 |
| Noonan Syndrome 7 |
|
Atrial septal defect, Depressed nasal bridge, Large for gestational age, Large earlobe, Thick ver... |
OMIM:613706 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c... |
ORPHA:98855 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Increased body weight, Hepatic fibrosis... |
ORPHA:264580 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Obesity |
OMIM:619854 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Camptodactyly of finger, Cachexia, Prominent nose, Open bite, Thick lower li... |
ORPHA:85293 |
| Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal d... |
OMIM:608978 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of penis, Hypogonadotropic hyp... |
ORPHA:478 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Facial hypotonia, Flexion contracture, Obesity, High palate, Macroorchidism, Male hypogonadism, M... |
OMIM:300055 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Ventricular septal defect, Diastasis recti, Large for gestational age,... |
ORPHA:254534 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Vertigo... |
ORPHA:77296 |
| Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Obe... |
OMIM:157980 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Optic atrophy, Choreoathetosis, Dystonia, Hypertrophic cardiomyopathy, Hearing impa... |
ORPHA:391428 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Large for gestational age, Short philtrum, Widely spaced teeth, Conductive hear... |
OMIM:280000 |
| Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c... |
ORPHA:98853 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Lacrimal gland aplasia, Mixed hearing impairment, Absence of Stensen duct, Renal agenesis, Delaye... |
OMIM:149730 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, EEG with burst suppression, Increased myocardial glycogen con... |
OMIM:261740 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr... |
OMIM:225250 |
| Immunodeficiency 13 |
|
Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Decreased proportion ... |
OMIM:615518 |
| Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Depressed nasal bridge, Cardiomegaly, Vertigo, Lip telangiecta... |
ORPHA:79280 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Hepatomegaly, Posteriorly rotated ears, Depressed nasal bridge, P... |
OMIM:301066 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Elevated u... |
ORPHA:653 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Obesity, Cleft palate, Disproportionate tall stature, H... |
OMIM:615300 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... |
ORPHA:909 |
| Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Intestinal obstruction, Neoplasm of the nose, Nasal polyposis, Abnorma... |
ORPHA:2869 |
| Pycnodysostosis |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:763 |
| Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Cardiomegaly, Hepatosplenome... |
OMIM:268800 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Craniopharyngioma |
|
Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Abnormal nasal bone morphol... |
ORPHA:54595 |
| Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Optic nerve hypoplasia, Broad nasal tip, Sensorineural hearing impa... |
OMIM:620155 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Sensorineural hearing impairment, Vacuolated lymph... |
ORPHA:565612 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Transient neutropenia, Ventricular septal defect, Large for gestational age, S... |
OMIM:617107 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Rhinit... |
OMIM:615444 |
| Sarcoidosis |
|
Abnormal nasal mucosa morphology, Increased T cell count, Nephrocalcinosis, Tubulointerstitial ne... |
ORPHA:797 |
| Ciliary Dyskinesia, Primary, 42 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:618695 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Hearing impairment, Cardiomegaly, Tremor, Sensorineural hearing impairment, Cardiomyopathy, Abnor... |
OMIM:105210 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98863 |
| Bachmann-Bupp Syndrome |
|
Thin upper lip vermilion, Large for gestational age, Cryptorchidism, Sensorineural hearing impair... |
OMIM:619075 |
| Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Obesity, Cleft palate, Protruding ear, Short philtrum, Increased serum testostero... |
ORPHA:247768 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity |
OMIM:617864 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly, Increased muscle glycogen content... |
OMIM:232300 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature th... |
ORPHA:371428 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... |
OMIM:171400 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Failure to thrive, Posteriorly rotated ears, Underdeveloped superior c... |
ORPHA:369950 |
| Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Decreased muscle mass, Failure to thrive in infancy, Hypospadi... |
ORPHA:813 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Urinary incontinence, Upper limb muscle weakness,... |
ORPHA:206448 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
| Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... |
ORPHA:252183 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly |
ORPHA:309155 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Prominent nasal bridge, Precocious puberty, Sensorineural hearing impairment, Dentinogenesis impe... |
OMIM:619269 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... |
ORPHA:733 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dys... |
OMIM:613091 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Limb-girdle m... |
ORPHA:79240 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Nasal polyposis, Recurrent sinusitis |
OMIM:620197 |
| Congenital Myopathy 9A |
|
EMG: myopathic abnormalities, Obesity |
OMIM:618822 |
| 48,Xxxy Syndrome |
|
Renal dysplasia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel morpholog... |
ORPHA:96263 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Depressed nasal bridge, Unilateral renal agenesis, Adrenal hypoplasia, Cleft ... |
OMIM:308050 |
| Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Large for gestationa... |
OMIM:229850 |
| White-Kernohan Syndrome |
|
Thin upper lip vermilion, Hydroureter, Tented upper lip vermilion, Anteverted nares, Depressed na... |
OMIM:619426 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Small for gestational age, Increase... |
OMIM:609152 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Muir-Torre Syndrome |
|
Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Colon ca... |
ORPHA:587 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Short philtrum, Vesicoureteral reflux, Conductive hearing impairment, S... |
ORPHA:567 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... |
ORPHA:169189 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of... |
ORPHA:1606 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Abnormal neuron morphology, Precocious puberty, EEG with generalized polyspikes, Ob... |
ORPHA:163681 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Depressed nasal bridge, Increased body weight, Horseshoe kidney, Downturned corners of mouth, Wid... |
OMIM:300860 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:91355 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Dila... |
ORPHA:466950 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Smooth philtrum, Delayed eruption of teeth, Recurrent urinary tract infections, EEG with focal sp... |
OMIM:619229 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Hyperinsulin... |
ORPHA:263455 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Wide nose, Dental crowding, Cryptorchidism, Obesity, Narrow palate, Lon... |
OMIM:616078 |
| 7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Congenital diaphragmatic hernia, Abnormal optic disc morphology, Short ph... |
ORPHA:96121 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Nephroblastoma, Congenital diap... |
OMIM:194080 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigable weakness, Hepatomegaly, Fatigable weakness of neck muscles, Cardiomegaly |
ORPHA:42 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Decreased response to growth hormone stimulation test, Fetal ascites, Prominent ... |
OMIM:619503 |
| Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin deficiency, Depressed... |
ORPHA:672 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Ciliary Dyskinesia, Primary, 5 |
|
Nasal polyposis, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Recurrent otitis ... |
OMIM:608647 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
| Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Atrial septal defect, Vesicoureteral reflux, Conductive hearing ... |
OMIM:157800 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
ORPHA:276608 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ... |
ORPHA:50918 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, Cardiomegaly, Cleft palate, Cardiomyopathy, Abnormal heli... |
ORPHA:158687 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Dila... |
ORPHA:466943 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Nasal polypos... |
OMIM:613808 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Nephroblastoma, R... |
ORPHA:77301 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Dextrocardia, Situs inversus totalis, Anosmia, Stage 5 chronic kidney disease, Obesity,... |
OMIM:615994 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Dilated cardiomyopathy, Bicuspid aortic valve, Broad nasal tip |
ORPHA:401923 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Obesity, Micropenis, Anteriorly placed anus, Hyposmia, High... |
OMIM:618653 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Downturned corners of mouth, Glossoptosis,... |
ORPHA:444077 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Vesicoureteral... |
OMIM:309580 |
| Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Obesity, Cholestasis, Tubulointerstitial nephritis, Hypogonadism,... |
OMIM:616629 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolith... |
ORPHA:18 |
| Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Large for gestational age, Overweight, Transi... |
ORPHA:552 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Nasal polyposis, Eosino... |
ORPHA:183 |
| Developmental And Epileptic Encephalopathy 49 |
|
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy |
OMIM:617281 |
| Pai Syndrome |
|
Nasal polyposis, Depressed nasal bridge, Midline defect of the nose |
ORPHA:1993 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, Ventricular septal defect, Overweight, High, narrow palate, Sensorineural... |
OMIM:619575 |
| Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... |
ORPHA:94086 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... |
ORPHA:189427 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Prominent n... |
ORPHA:177907 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transpo... |
OMIM:253800 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Low-set ears, Dystonia, Macroti... |
ORPHA:79255 |
| Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Nasal polyposis |
OMIM:604571 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Overweight, Recurrent upper respiratory tract infections, Increased si... |
OMIM:619769 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Depressed nasal ridge, Orofacial cleft, High palate, Thick... |
OMIM:607872 |
| Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... |
ORPHA:2495 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Bicuspid aortic valve, Otitis media, Vesicoureteral reflux, Conductive hearing i... |
ORPHA:353281 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Narrow nasal bridge, Thin upper lip vermilion, Premature pubarche, Precocious puberty, Cryptorchi... |
ORPHA:398069 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, High palate, Micropenis, Ovarian ser... |
ORPHA:1772 |
| Phace Association |
|
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Congenital hyp... |
OMIM:606519 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Early onset of sex... |
OMIM:194050 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears |
OMIM:617301 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Spleni... |
OMIM:603903 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... |
OMIM:615574 |
| Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... |
OMIM:188400 |
| Kagami-Ogata Syndrome |
|
Pursed lips, Anteverted nares, Depressed nasal bridge, Diastasis recti, Large for gestational age... |
ORPHA:254519 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Prolonged neonatal jaundice, Obesity, Hepatomegaly |
OMIM:612291 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Atrial septal defect, Wide nose, Posteriorly rotated ears, Decreased response to growth hormone s... |
OMIM:213980 |
| Cystic Fibrosis |
|
Elevated hepatic transaminase, Nasal polyposis, Meconium ileus, Malabsorption, Exocrine pancreati... |
ORPHA:586 |
| Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... |
ORPHA:1359 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis |
OMIM:155145 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Optic atrophy, Hepatosplenomegaly, Dystonia, Laryngeal dyst... |
ORPHA:845 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Microtia, Obesity, Prominent nose |
ORPHA:319675 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Microtia, Low-set ears, Cardiomegaly |
OMIM:613320 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Adenocarcinoma of the colon, Posteriorly rotated ears, Embryonal rhabdomyosarcoma, Multinodular g... |
OMIM:620189 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... |
OMIM:619991 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Wagro Syndrome |
|
Proteinuria, Dental crowding, Obesity, Low-set ears, Nephroblastoma, Decreased testicular size |
OMIM:612469 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Peptic ulcer, Overweight, Splenomegaly, Vertigo, Increased mean corpuscular he... |
ORPHA:90041 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Cardiac my... |
OMIM:160980 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestation... |
ORPHA:26793 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, High, narrow palate, Protruding ear, Short philtrum, High palate, Otitis m... |
OMIM:619475 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, L... |
OMIM:616026 |
| Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, High, narrow palate, Protruding ear, Knee flexion contracture, High pal... |
OMIM:614976 |
| Lipoid Proteinosis |
|
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... |
ORPHA:530 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Abnormal tubulointerst... |
ORPHA:904 |
| Thyroid Ectopia |
|
Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Hypothyroidism |
ORPHA:95712 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Diabetes mellitus, Tented upper lip vermilion, Anteverted nares, C... |
OMIM:614231 |
| Witteveen-Kolk Syndrome |
|
Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Congenital dia... |
OMIM:613406 |
| Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Posteriorly rotated ears, Prominent nasal bridge, Large for gestational age, ... |
OMIM:617011 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Myhre Syndrome |
|
Thin upper lip vermilion, Small for gestational age, Prominent nasal bridge, Ventricular septal d... |
OMIM:139210 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Rectal prolapse, Abnormality of the u... |
OMIM:175200 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Anteverted nares, Decreased response to growth hormone stimulation... |
ORPHA:293987 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
| Monosomy 22Q13.3 |
|
Renal dysplasia, Dental crowding, Hearing impairment, Bulbous nose, Dental malocclusion, Obesity,... |
ORPHA:48652 |
| Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Abnormality of the dentition, Flexion contracture, Elbow flexion contrac... |
ORPHA:3206 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Abnormal heart morphology, Abnormal cardiac septum morphology, Ectopic th... |
ORPHA:42775 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Ab... |
ORPHA:79102 |
| 1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Obesity, Wide mouth, Long ear, Short nose |
ORPHA:293948 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, High palate, Otitis media, Vesicoureteral reflux, Conduct... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, High palate, Otitis media, Vesicoureteral reflux, Conduct... |
ORPHA:353277 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy, Low-set ears |
OMIM:617527 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Tendon xanthomatosis, Ren... |
ORPHA:412 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Facial hypotonia, Prominent nasal bridge, Large for gestationa... |
ORPHA:457359 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Inflammation of the large intestine, ... |
ORPHA:99413 |
| Turner Syndrome |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Inflammation of the large intestine, ... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Inflammation of the large intestine, ... |
ORPHA:99228 |
| Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Inflammation of the large intestine, ... |
ORPHA:99226 |
| Cystic Fibrosis |
|
Hepatomegaly, Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Cor pulmonale, Hypercalciu... |
OMIM:219700 |
| Familial Multinodular Goiter |
|
Hyperthyroidism, Alveolar rhabdomyosarcoma, Multinodular goiter, Ovarian neoplasm, Renal cell car... |
ORPHA:276399 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Proteinuria, Bilateral cryptorchidism, Obesity, Atria... |
OMIM:619471 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Dental crowding, Anteverted nares, Depressed nasal bridge, Br... |
OMIM:617157 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocyto... |
OMIM:300952 |
| Alström Syndrome |
|
Abnormality of dental color, Decreased response to growth hormone stimulation test, Urinary incon... |
ORPHA:64 |
| Granulomatosis With Polyangiitis |
|
Oral ulcer, Weight loss, Granulomatosis, Concave nasal ridge, Chronic otitis media, Nasal mucosa ... |
OMIM:608710 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Mixed hearing impairment, Thickened helices, Cardiomegaly, Abnormality of the middl... |
ORPHA:581 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Prominent antitragus, Mitral valve prolapse, Microtia, Low-s... |
OMIM:245600 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... |
OMIM:615830 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricul... |
ORPHA:51608 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:619259 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Cushing Disease |
|
Increased urinary cortisol level, Lymphopenia, Adrenal hyperplasia, Diabetes mellitus, Paradoxica... |
ORPHA:96253 |
| Cowden Syndrome 7 |
|
Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi... |
OMIM:616858 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Joubert Syndrome 39 |
|
Overweight, Hypoplastic left heart, Joint contracture of the 5th finger |
OMIM:619562 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Brachial plexus neuropathy, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Fatigable weakness of respiratory muscles, Fatigable weakness of swal... |
ORPHA:365 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Abdominal mass, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis |
OMIM:615989 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... |
ORPHA:99889 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Dystonia |
OMIM:618278 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Tremor, L... |
OMIM:300967 |
| Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Premature loss of teeth, Multinodular goiter |
OMIM:618373 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Tremor, Hepatosplenomegaly, Low-set ears, Dystonia, Hypertrophic cardiomyopathy |
ORPHA:51 |
| Faciocardiomelic Syndrome |
|
Common atrium, Anteverted nares, Depressed nasal bridge, Large for gestational age |
OMIM:612731 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
| Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Flexion contracture, Renal cyst, Ant... |
OMIM:601803 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Bicuspid aortic valve, Ventricular septal defect... |
ORPHA:438213 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal cardiac septum morphology, Optic atrophy, Cardiomegaly |
ORPHA:97297 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Optic atrophy, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Ventricular septal defect, Posteriorly rotated ears, Microtia, Low-... |
OMIM:619522 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Abnormal pinna morphology, Cardiomegaly, Cardiomyopathy, Low-set ears,... |
ORPHA:3472 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Macrotia, Cardiomegaly |
OMIM:256040 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
