Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... |
OMIM:616515 |
Multiple Myeloma |
|
Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Functional abnormality of the ... |
ORPHA:29073 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Pulmonar... |
ORPHA:1655 |
Kbg Syndrome |
|
Cryptorchidism, Short neck, Widely-spaced maxillary central incisors, Delayed skeletal maturation... |
ORPHA:2332 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Pulmonary lymphangiectasia, ... |
OMIM:235255 |
Alpha-Mannosidosis |
|
Synostosis of joints, Craniofacial hyperostosis, Open bite, Bowing of the long bones, Short neck,... |
ORPHA:61 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... |
OMIM:113000 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Scoliosis, Abnormal form of the vertebral bodies, Narrow ... |
ORPHA:2370 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... |
OMIM:619868 |
Winchester Syndrome |
|
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Arthropathy, Hirsutism... |
OMIM:277950 |
Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Megalocornea, Cryptorchidism, Short neck, Everted lower lip vermil... |
ORPHA:915 |
Gaisböck Syndrome |
|
Increased red blood cell count, Peptic ulcer, Nephrocalcinosis, Increased mean corpuscular hemogl... |
ORPHA:90041 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal heart valve morphology... |
ORPHA:577 |
Squamous Cell Carcinoma Of The Esophagus |
|
Clinodactyly of the 5th toe, Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Osteopenia, Scoliosis, Short iliac bones, Flattened proximal radial epiphyses, Kyp... |
OMIM:271530 |
Johanson-Blizzard Syndrome |
|
Abnormality of the dentition, Alopecia, Abnormal vagina morphology, Anteriorly placed anus, Delay... |
ORPHA:2315 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... |
ORPHA:158048 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... |
OMIM:268310 |
Koolen-De Vries Syndrome |
|
Cryptorchidism, Arachnodactyly, Bicuspid aortic valve, Everted lower lip vermilion, Hypospadias, ... |
ORPHA:96169 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Dilated cardi... |
OMIM:615895 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Cleft upper lip, Vesicoureteral reflux, Limited elbow extension and supination, Shor... |
OMIM:244600 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Unilateral renal agenesis, Vertebral segmentation defect, Ureteral atresi... |
OMIM:618845 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Hurler-Scheie Syndrome |
|
Abnormal vertebral morphology, Limitation of joint mobility, Cardiomyopathy, Abnormal heart valve... |
ORPHA:93476 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... |
ORPHA:90650 |
Temple Syndrome |
|
Precocious puberty, Bifid uvula, Small hand, Scoliosis, Clinodactyly, Decreased testicular size, ... |
OMIM:616222 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Bifid uvula, Small hand, Clinodactyly, Micrognathia, Narrow mouth, Cryptorchi... |
ORPHA:96184 |
Mosaic Trisomy 9 |
|
Limitation of joint mobility, Elbow dislocation, Micrognathia, Endocardial fibroelastosis, Crypto... |
ORPHA:99776 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process,... |
OMIM:253010 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Postaxial foot polydactyly, Overlapping fingers, Cryptorchidism, Ventricular septal defect, Talip... |
OMIM:301056 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Elevated circulating hepatic transaminase concentration, Micrognathia, Cryptorchidism, ... |
OMIM:608093 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Ventricular septal defect, Cer... |
ORPHA:2345 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Small hand, Clinodactyly, Micrognathia, Joint hypermobility, Short philtrum, ... |
ORPHA:254531 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... |
ORPHA:1802 |
Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... |
ORPHA:3320 |
Sialidosis Type 2 |
|
Nephropathy, Ascites, Splenomegaly, Tremor, Corneal opacity, Hepatomegaly, Osteoporosis, Flexion ... |
ORPHA:87876 |
Verheij Syndrome |
|
Short 5th finger, Renal hypoplasia, Clinodactyly, Long philtrum, Retrognathia, Joint hypermobilit... |
OMIM:615583 |
Frontometaphyseal Dysplasia 1 |
|
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va... |
OMIM:305620 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... |
ORPHA:75234 |
Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph... |
ORPHA:528 |
Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... |
OMIM:201000 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
Deafness, Autosomal Dominant 75 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment |
OMIM:618778 |
Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... |
OMIM:232700 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Nephrotic syndrome, Fair hair, Ascites, Gingival overgrowth, Splenomegaly, Cardiomega... |
OMIM:269920 |
Deafness, Autosomal Dominant 87 |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla, Limited elbow... |
OMIM:300280 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Patellar dislocation, Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental e... |
ORPHA:2916 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... |
ORPHA:485 |
Koolen-De Vries Syndrome |
|
Open mouth, Cryptorchidism, Narrow palm, Ventricular septal defect, Bicuspid aortic valve, Everte... |
OMIM:610443 |
Galloway-Mowat Syndrome 7 |
|
Minimal change glomerulonephritis, Clinodactyly, Micrognathia, Ventricular septal defect, Arachno... |
OMIM:618348 |
Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
ORPHA:90652 |
Mucopolysaccharidosis, Type Vii |
|
Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Urinary glycosamin... |
OMIM:253220 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD... |
OMIM:278000 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Abnormality of the ureter, Micrognathia, Open mouth, Delayed eruption of primary ... |
ORPHA:819 |
Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Hypoalbuminemia, Elevated circulating hepatic tran... |
ORPHA:398063 |
Mucopolysaccharidosis Type 4 |
|
Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Joint dislocation, Delayed skel... |
ORPHA:582 |
Deafness, Autosomal Dominant 44 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
Deafness, Autosomal Dominant 86 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Corneal opacity |
ORPHA:351 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, ... |
OMIM:617872 |
Robinow Syndrome |
|
Small scrotum, Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Micrognathia, Mark... |
ORPHA:97360 |
Gm1 Gangliosidosis |
|
Hepatosplenomegaly, Abnormal scrotum morphology, Narrow mouth, Ventricular septal defect, General... |
ORPHA:354 |
Wolf-Hirschhorn Syndrome |
|
Ectopia pupillae, Micrognathia, Cryptorchidism, Ventricular septal defect, Low posterior hairline... |
OMIM:194190 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Iris coloboma, Cataract, Ver... |
OMIM:109400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle weakness, Elbow contracture, Elevated circulating creatine kinase concentr... |
OMIM:606612 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Multiple renal cysts, Na... |
ORPHA:66637 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Neoplasm o... |
ORPHA:543 |
Hurler Syndrome |
|
Hypoplasia of the odontoid process, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Endo... |
OMIM:607014 |
Cockayne Syndrome Type 1 |
|
Cataract, Male hypogonadism, Abnormality of the dentition, Foot joint contracture, Elevated circu... |
ORPHA:90321 |
Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Clinodactyly of the 5th toe, Lymphadenopathy, Esophag... |
ORPHA:99976 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Ventricular septal defect, Tal... |
OMIM:150250 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
46,Xy Sex Reversal 4 |
|
Long philtrum, Gonadal dysgenesis, Elevated circulating creatinine concentration, Distal symphala... |
OMIM:154230 |
Smith-Magenis Syndrome |
|
Abnormal forearm morphology, Abnormality of the dentition, Scoliosis, Everted upper lip vermilion... |
OMIM:182290 |
Roifman Syndrome |
|
Biconvex vertebral bodies, Downturned corners of mouth, Long philtrum, Short toe, Prominent eyela... |
OMIM:616651 |
Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short nec... |
OMIM:253000 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
Laron Syndrome |
|
Delayed eruption of teeth, Short toe, Tooth agenesis, Delayed skeletal maturation, Micrognathia, ... |
ORPHA:633 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Gastroesophageal reflux, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the ma... |
ORPHA:313892 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Supernumerary nipple, Overlapping toe, Micrognathia, Low posterior hairline, Talipes equinovarus,... |
OMIM:213980 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Enuresis, Elevated circulating hepatic transaminase concentrat... |
ORPHA:247585 |
Gorlin Syndrome |
|
Abnormal vertebral morphology, Palmar pits, Carious teeth, Cryptorchidism, Arachnodactyly, Anteri... |
ORPHA:377 |
Roifman Syndrome |
|
Epiphyseal dysplasia, Biconvex vertebral bodies, Downturned corners of mouth, Long philtrum, Shor... |
ORPHA:353298 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hepatic steatosis, Hirsutism, Hypercholesterolemi... |
OMIM:612526 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Intestinal obstruction, Abnormal intestine... |
OMIM:226300 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... |
OMIM:610539 |
Lowry-Maclean Syndrome |
|
Megalocornea, Micrognathia, Delayed eruption of primary teeth, Midgut malrotation, Hypospadias, H... |
ORPHA:2409 |
Caudal Regression Syndrome |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Abnormality of the uret... |
ORPHA:3027 |
Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Cleft upper lip, Short finger, Hypoplastic heart, Micrognathia, Inc... |
OMIM:312150 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nippl... |
ORPHA:373 |
Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal heart morphology, Azoospermia, Narrow ... |
ORPHA:1445 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Cleft lip... |
OMIM:616730 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia, Pro... |
OMIM:152800 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hearing impairment, Aganglionic megacolon, White eyebrow, Wh... |
OMIM:600501 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi... |
ORPHA:264580 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacar... |
OMIM:166300 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Hy... |
OMIM:615703 |
Ophthalmomandibulomelic Dysplasia |
|
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... |
ORPHA:2741 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Dilated cardiomyopathy, Shoulder girdle muscle weakness, Exercise-induced myoglobinuria, Elevated... |
OMIM:607155 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... |
OMIM:277300 |
Mucopolysaccharidosis Type 1 |
|
Generalized hirsutism, Everted lower lip vermilion, Joint dislocation, Hypertrophic cardiomyopath... |
ORPHA:579 |
Sanjad-Sakati Syndrome |
|
Abnormality of the dentition, Small hand, Patchy osteosclerosis, Hyperphosphatemia, Long philtrum... |
ORPHA:2323 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microcornea, Median cleft palate, Corneal opacity |
ORPHA:2432 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Kyphosis, Hypoplasia of the iris, Megalocornea, Micrognathia, Open mouth, Astigmatism... |
ORPHA:2479 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Micrognathia, Narrow mouth, Cryptorchidism, Patellar aplasia, Dysplastic p... |
OMIM:265000 |
Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Lumbar hyperlordosis, Precocious costochondral ossification... |
OMIM:271630 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Carious teeth, Premature graying of hair, Open bite, Congenital pyloric atresia, Micrognathia, Cr... |
ORPHA:2617 |
Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Hypoplastic acetabulae, Splenomegaly, Flared iliac wing, Hepatomegaly, Anterior be... |
OMIM:230650 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Abnormal dental morphology, Abnormal hip bone morphology, Micro... |
ORPHA:2522 |
Galactokinase Deficiency |
|
Cataract, Nuclear cataract, Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactit... |
ORPHA:79237 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre... |
OMIM:603553 |
Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Cry... |
ORPHA:534 |
Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... |
OMIM:272460 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Block vertebrae, Abnormal odontoid process morphology, Situs inversus totalis, Ver... |
OMIM:613686 |
Kbg Syndrome |
|
Ulnar deviation of the 2nd finger, Cryptorchidism, Low posterior hairline, Short neck, Widely-spa... |
OMIM:148050 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... |
OMIM:306000 |
Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Short finger, Hypoplastic heart, Micrognathia, Increased susceptibi... |
OMIM:253290 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal ... |
ORPHA:1830 |
Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi... |
ORPHA:1826 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy |
OMIM:616126 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Carious teeth, Hypoplasia of the odontoid process, Hypoplastic iliac wing, ... |
OMIM:253200 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Ventricular septal defect, Short... |
OMIM:178110 |
Leptospirosis |
|
Acute kidney injury, Hepatitis, Conjunctival hyperemia, Elevated serum transaminases during infec... |
ORPHA:509 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Small hand, Cervical kyphosis, Dilated cardiomyopathy, Short clavicles, Bi... |
ORPHA:401923 |
Sialidosis Type 1 |
|
Aminoaciduria, Cataract, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Thic... |
ORPHA:812 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly, T lymphocytopenia |
OMIM:608971 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Scoliosis, Delayed sk... |
ORPHA:2501 |
Hurler Syndrome |
|
Abnormal vertebral morphology, Limitation of joint mobility, Endocardial fibroelastosis, Generali... |
ORPHA:93473 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Osteomyelitis, Broad ribs, Splenomegaly, Joint swelling, Hepatomegaly, F... |
OMIM:612852 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal vertebral morphology, Aortic valve stenosis, Sparse scalp hair, Megalocornea, Subluxatio... |
ORPHA:536471 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestina... |
ORPHA:90362 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Trisomy 4P |
|
Abnormality of the dentition, Carious teeth, Delayed skeletal maturation, Preaxial hand polydacty... |
ORPHA:1738 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased int... |
OMIM:618961 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Clitoral hypertrophy, Joint contracture of the hand, Micrognathia, Cryptorchidism, Talipes equino... |
OMIM:214110 |
Myhre Syndrome |
|
Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla... |
OMIM:139210 |
Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Short hal... |
ORPHA:959 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ... |
OMIM:613490 |
Deafness, Autosomal Dominant 77 |
|
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
Lateral Meningocele Syndrome |
|
Coarse hair, Dental crowding, Long philtrum, Sclerosis of skull base, Micrognathia, Cryptorchidis... |
OMIM:130720 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Abnormality of the ureter, Micrognathia, Abnormal gastrointestinal tra... |
ORPHA:1834 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... |
OMIM:601369 |
Mosaic Trisomy 20 |
|
Craniofacial asymmetry, Cleft lip, Retrognathia, Clinodactyly, Spinal canal stenosis, Horseshoe k... |
ORPHA:1724 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Ventricular septal defect... |
OMIM:616897 |
Mucopolysaccharidosis, Type Iiib |
|
Coarse hair, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Hirsutism, Cardio... |
OMIM:252920 |
Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:235200 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypertrichosis, Microcytic anemia, Hepatosplenomegaly, Cubitus valgus, Short neck, Deep philtrum,... |
OMIM:619750 |
Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... |
OMIM:252500 |
Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Recurrent infection ... |
ORPHA:263501 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Scoliosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tars... |
OMIM:618469 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to... |
ORPHA:370010 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Micrognathia, Cryptorchidism, Mitral valve prolapse, Low posterior hairline, Short neck, High pal... |
OMIM:618000 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture of the distal interphala... |
OMIM:607015 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Thick lower lip vermilion, Abnormal heart valve morphology, Broad ribs, Joi... |
ORPHA:583 |
Alpha-Heavy Chain Disease |
|
Alopecia, Ascites, Abnormal small intestine morphology, Hypocalcemia, Splenomegaly, Hepatomegaly,... |
ORPHA:100025 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Foot acroosteolysis, Gastric hypertrophy, Metacarpal periosteal thickening, Periosteal thickening... |
OMIM:161700 |
Chédiak-Higashi Syndrome |
|
Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal... |
ORPHA:167 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Cantu Syndrome |
|
Thick upper lip vermilion, Broad first metatarsal, Bicuspid aortic valve, Hypoplastic ischiopubic... |
OMIM:239850 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... |
OMIM:101200 |
Liver Disease, Severe Congenital |
|
Dry hair, Portal inflammation, Dilatation of the ventricular cavity, Micrognathia, Hyperbilirubin... |
OMIM:619991 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Developmental cataract, Corn... |
OMIM:618815 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Rhizomelia, Proximal femoral metaphyseal irregularity, Splenomegaly, Narrow greate... |
OMIM:602271 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Renal insufficiency, Congenital nephrot... |
OMIM:256300 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma... |
ORPHA:52368 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Ventricular septal defect, Bi... |
ORPHA:508498 |
Alagille Syndrome 1 |
|
Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Cirrhosis, Atria... |
OMIM:118450 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... |
ORPHA:247598 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Renal tu... |
ORPHA:79240 |
Omenn Syndrome |
|
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop... |
OMIM:603554 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Short 1st metacarpal, D... |
OMIM:609053 |
Ménétrier Disease |
|
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal g... |
ORPHA:2494 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Hepatoportal Sclerosis |
|
Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascit... |
ORPHA:64743 |
Sifrim-Hitz-Weiss Syndrome |
|
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Renal insufficiency, Cryptorchidism, As... |
OMIM:617159 |
Prader-Willi Syndrome |
|
Small scrotum, Small hand, Carious teeth, Clinodactyly, Decreased HDL cholesterol concentration, ... |
OMIM:176270 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary c... |
OMIM:620454 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Micrognathia, Genu valgum, Hip contracture, Flattened epiphysis, Advanced ossifica... |
OMIM:618363 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Hepatitis, Ascites, Abnormal hip bone morphology, E... |
ORPHA:584 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C... |
ORPHA:470 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... |
OMIM:610017 |
Pyle Disease |
|
Platyspondyly, Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of... |
OMIM:265900 |
Chops Syndrome |
|
Cryptorchidism, Ventricular septal defect, Curly hair, High, narrow palate, Cataract, Gastroesoph... |
OMIM:616368 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, A... |
OMIM:118100 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Carious teeth, Periodontitis, Xanthelasma, Hepatic steatosis... |
ORPHA:79259 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Delayed cranial suture closure, Micrognathia, Calcinosis, Hepatomegaly, High p... |
OMIM:248370 |
Gaucher Disease Type 1 |
|
Gingival bleeding, Decreased HDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Pa... |
ORPHA:77259 |
Mulibrey Nanism |
|
Microglossia, Dental malocclusion, Dental crowding, Ascites, Astigmatism, Single transverse palma... |
OMIM:253250 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Aplasia of metacarpal bones, Small thenar eminence, Atrial septal defe... |
OMIM:607323 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Brachydactyly, Anal atresia, Abnormal sacrum morphology, Scoliosis, Short... |
ORPHA:1436 |
Proteus Syndrome |
|
Mandibular hyperostosis, Facial hyperostosis, Spinal canal stenosis, Open mouth, Splenomegaly, Ky... |
OMIM:176920 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
Juvenile Sialidosis Type 2 |
|
Cataract, Visceromegaly, Abnormal form of the vertebral bodies, Abnormal heart morphology, Hepato... |
ORPHA:93399 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal paranasal sinus morphology, Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia |
OMIM:207731 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary ribs, Hemivertebrae, ... |
OMIM:122600 |
Zellweger Syndrome |
|
Cataract, Clitoral hypertrophy, Multicystic kidney dysplasia, Hepatic failure, Micrognathia, Epip... |
ORPHA:912 |
Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Long philtrum, Beaking of vertebral bodies T12-L3, Cardiomyopathy, Hepatosplenomeg... |
ORPHA:79255 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Dental crowding, Delayed eruption of teeth, Long philtrum, Clinodactyly, Oligosacchariduria, Hype... |
OMIM:616354 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Aplasia of the va... |
OMIM:271520 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
Lethal Congenital Contracture Syndrome 10 |
|
Long philtrum, Stiff neck, Broad ribs, Overlapping fingers, Micrognathia, Femoral bowing, Thoraci... |
OMIM:617022 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ectopia pupillae, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Increased ... |
OMIM:608940 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... |
ORPHA:85450 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Short neck, Anal atresia, High palate... |
ORPHA:2059 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Enlarged metaphyses, Micrognathia, Narrow mouth, Genu valgum, Mitral valve prolapse, Low posterio... |
OMIM:245600 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Hepatomega... |
OMIM:602557 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Long eyelashes, Low posterior hairline, Optic disc pallor, A... |
OMIM:617523 |
Congenital Rubella Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Ventricular septal defect, Hepatomegaly, ... |
ORPHA:290 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Micrognathia, Corneal opacity, Developmental cataract, Hip dysplasia... |
OMIM:617183 |
Microphthalmia, Syndromic 3 |
|
Cataract, Butterfly vertebrae, Cryptorchidism, Ventricular septal defect, Missing ribs, Hypogonad... |
OMIM:206900 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Bilateral single transverse palmar creases, Abnormal hair quantity, Clinodactyly of ... |
ORPHA:1116 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Microcornea, Broad thumb, Gastroesophageal reflux, Short thumb, Interphalangeal ... |
OMIM:151200 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Open bite, Acute hepatic failure... |
ORPHA:2092 |
Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Delayed skeletal maturation, Elbow flexion contracture, Hypercalcemia... |
OMIM:618440 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepatic failure, Arthritis, Stiff... |
ORPHA:465508 |
Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Abnormal circulating creat... |
ORPHA:488650 |
Smith-Lemli-Opitz Syndrome |
|
Clitoral hypertrophy, Postaxial foot polydactyly, Multicystic kidney dysplasia, Finger syndactyly... |
ORPHA:818 |
Mucolipidosis Iii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Shallow acetabular fossae, Limitation of joint mobility, Sco... |
OMIM:252600 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... |
OMIM:620010 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Short metacarpal, Ovoid vertebral bo... |
ORPHA:85167 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Genu valgum, Urinary glycosaminoglycan excretion, Abnormal mitral valv... |
ORPHA:581 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Widely space... |
OMIM:135100 |
Mosaic Trisomy 8 |
|
Limitation of joint mobility, Arthrogryposis multiplex congenita, Abnormal rib morphology, Campto... |
ORPHA:96061 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Long philtrum, Cardiomyopathy, Micrognathia, Acetabular dysplasia, Thin upper lip vermilion, Cerv... |
OMIM:616549 |
Tbck-Related Intellectual Disability Syndrome |
|
Clinodactyly, Cryptorchidism, Ventricular septal defect, Short neck, Broad toe, High, narrow pala... |
ORPHA:488632 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Abnormality of th... |
ORPHA:1414 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment |
OMIM:617519 |
Neuhauser Syndrome |
|
Genu recurvatum, Bifid uvula, Osteopenia, Long philtrum, Hypoplasia of the iris, Megalocornea, Mi... |
OMIM:249310 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Elevated circulating hepatic... |
ORPHA:26793 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade... |
ORPHA:100024 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... |
OMIM:602782 |
Cantú Syndrome |
|
Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short neck, Short hallux, Ovoid... |
ORPHA:1517 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Cryptorchidism, Talipes equinova... |
OMIM:108720 |
Duane Retraction Syndrome |
|
Micrognathia, Low posterior hairline, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Short... |
ORPHA:233 |
Gaucher Disease |
|
Gingival bleeding, Aortic valve calcification, Decreased HDL cholesterol concentration, Pancytope... |
ORPHA:355 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Hypogonadism, Micrognathia, Splenomegaly, Hepatomegaly, Joint contracture, Thin v... |
OMIM:608540 |
Erythrokeratodermia Variabilis |
|
Cataract, Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hir... |
ORPHA:317 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Low posterior hairli... |
OMIM:214300 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea nitrogen, Ele... |
ORPHA:231111 |
Distal Duplication 18Q |
|
Progressive intervertebral space narrowing, Carious teeth, Deviation of finger, Camptodactyly of ... |
ORPHA:1716 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin ribs, Narrow mouth, Arachnodactyly, Low posterior hairline, Abnormal bone ossification, High... |
ORPHA:2463 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Dental malocclusion, Pollakisuria, Vertebral fusion, Widow's peak, Cryptorchidism, Down-sloping s... |
OMIM:227330 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Elbow dislocation, Abnormality of the spleen, Esophagitis, Perineal... |
ORPHA:2538 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Proteinuria, Episodic hemolytic anemia, Increased blood urea n... |
ORPHA:251004 |
Zimmermann-Laband Syndrome |
|
Facial hypertrichosis, Micrognathia, Short neck, Hepatomegaly, High palate, Gingival fibromatosis... |
ORPHA:3473 |
Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Acute leukemia, Hypogonadism, Abnormal stomach morphology, Renal insuf... |
ORPHA:281090 |
Williams Syndrome |
|
Synostosis of joints, Carious teeth, Megalocornea, Open bite, Micrognathia, Genu valgum, Cryptorc... |
ORPHA:904 |
Primary Biliary Cholangitis |
|
Xanthelasma, Cirrhosis, Hepatomegaly, Jaundice, Celiac disease, Esophageal varix, Ascites, Abnorm... |
ORPHA:186 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Scoliosis, Hypertrophic cardiomyopathy, Micrognathia, Cryptorchidism, 3-Methylglutaconi... |
ORPHA:496790 |
Carpenter Syndrome |
|
Abnormal cornea morphology, Toe syndactyly, Broad thumb, Finger syndactyly, Polysplenia, Preaxial... |
ORPHA:65759 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Alopecia, Atrichia, Short finger, Abnormal heart morphology, Decreased testicular size,... |
ORPHA:1867 |
Mucopolysaccharidosis, Type Iiic |
|
Coarse hair, Hypertrichosis, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, T... |
OMIM:252930 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... |
OMIM:608836 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Kyphosis, Long philtrum, Delayed skeletal maturation, Ascites, Hypocholesterolem... |
OMIM:608776 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Kayser-Fleischer ring, Pathol... |
ORPHA:905 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
Bartsocas-Papas Syndrome |
|
Synostosis of joints, Popliteal pterygium, Toe syndactyly, Finger syndactyly, Absent thumb, Alope... |
ORPHA:1234 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... |
OMIM:208920 |
Frontometaphyseal Dysplasia 2 |
|
Broad thumb, Cryptorchidism, Hip contracture, Talipes equinovarus, Bicuspid aortic valve, Disloca... |
OMIM:617137 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Osteogenesis Imperfecta |
|
Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, G... |
ORPHA:666 |
Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Megalocornea, Micrognathia, Cryptorchidism, Arachnodactyly, Talipe... |
ORPHA:280 |
Wilson Disease |
|
Hypouricemia, Kayser-Fleischer ring, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Lim... |
OMIM:277900 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Glycosuria, Renal tubu... |
OMIM:614817 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Osteopenia, Alopecia, Horseshoe kidney, Abnormal dental morphology, Hypophosp... |
OMIM:163200 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney... |
ORPHA:3109 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Alopecia, Dental crowding, Contractures of the large... |
ORPHA:2457 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reticulo... |
OMIM:210250 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Sparse body hair, Abnormal den... |
ORPHA:1133 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
Kerion Celsi |
|
Alopecia, Lymphadenopathy |
ORPHA:499 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Joint hypermobility, Brachydactyly, Increased blood urea nitrogen, Nocturia, Elev... |
OMIM:223360 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia |
OMIM:620085 |
Dengue Fever |
|
Gingival bleeding, Gastrointestinal hemorrhage, Ascites, Leukopenia, Thrombocytopenia, Hepatomega... |
ORPHA:99828 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Coombs-posi... |
OMIM:619375 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... |
OMIM:613313 |
Griscelli Syndrome |
|
Iris hypopigmentation, Bone marrow hypocellularity, Silver-gray hair, Hepatitis, Abnormal circula... |
ORPHA:381 |
8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Abnormality of the dentition, Downturned corners of mouth, Finge... |
ORPHA:284160 |
Congenital Disorder Of Glycosylation, Type Ie |
|
High, narrow palate, Ankle flexion contracture, Small hand, Elevated circulating hepatic transami... |
OMIM:608799 |
48,Xxyy Syndrome |
|
Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Radioulnar synostosis, Broad jaw, Ga... |
ORPHA:10 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, ... |
OMIM:209950 |
Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Highly arched eyebrow, Toe syndactyly, Short thumb, Anteriorly pla... |
ORPHA:2319 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Varicocele, Acute kidney injury, Rheumatoid arthritis, Elevated circulating cr... |
ORPHA:49041 |
Infantile Liver Failure Syndrome 3 |
|
Platyspondyly, Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration... |
OMIM:618641 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Pycnodysostosis |
|
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Hepatosplenome... |
ORPHA:763 |
Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Cryptorchidism, Proxim... |
OMIM:309000 |
Morquio Syndrome C |
|
Platyspondyly, Corneal opacity |
OMIM:252300 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Hypophosphatemia, Hepatomegaly... |
ORPHA:289157 |
Multiple Sulfatase Deficiency |
|
Cataract, Broad thumb, Coarse hair, Joint stiffness, Thick eyebrow, Splenomegaly, Smooth philtrum... |
ORPHA:585 |
Morgagni-Stewart-Morel Syndrome |
|
Action tremor, Hyperuricemia, Hirsutism, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hype... |
ORPHA:77296 |
Mucous Membrane Pemphigoid |
|
Gingivitis, Oral mucosal blisters, Corneal opacity |
ORPHA:46486 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Gastroesophageal reflux, Elevated circulating creatinine concentration, Recurrent corneal erosion... |
OMIM:223900 |
Christian Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Scoliosis, Short middle phalanx o... |
OMIM:309620 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy, Corneal opacity, Decreased HDL cholesterol concentration, Hepatome... |
ORPHA:79292 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbili... |
OMIM:301068 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... |
OMIM:235510 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... |
OMIM:602390 |
Distal Deletion 6P |
|
Ectopia pupillae, Micrognathia, Talipes equinovarus, Posterior embryotoxon, Atrial septal defect,... |
ORPHA:96125 |
Mosaic Trisomy 1 |
|
Hand clenching, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnodactyly, Hepatic... |
ORPHA:1692 |
Fucosidosis |
|
Beaking of vertebral bodies, Absent/hypoplastic coccyx, Hepatomegaly, Anterior beaking of lumbar ... |
OMIM:230000 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Downturned corners of mouth, Bilateral cryptorchidism, Lumbar hyperlordosis, Open mouth, Astigmat... |
OMIM:617796 |
Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Periodontitis, Open bite, Micrognathia, Narrow mouth, Decreased skull ossi... |
ORPHA:955 |
Neuraminidase Deficiency |
|
Cataract, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Epiphyseal s... |
OMIM:256550 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp... |
ORPHA:2788 |
Intermediate Osteopetrosis |
|
Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sand... |
ORPHA:210110 |
Cornelia De Lange Syndrome 1 |
|
Micrognathia, Cryptorchidism, Ventricular septal defect, Low posterior hairline, Hypoplastic labi... |
OMIM:122470 |
Progressive Familial Intrahepatic Cholestasis |
|
Delayed skeletal maturation, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Red... |
ORPHA:172 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly, Abnormal metaphysis morphology, Recurrent fractures |
ORPHA:417 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Sandal gap, Ascites, Abnormality of the ureter, Micrognathia, Narrow mouth, Splenomegaly, Anemia,... |
ORPHA:1046 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Splenomegaly, Chronic sinusitis, Abnormal intestine morphology, B lymphocy... |
ORPHA:397596 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Clitoral hypertrophy, Cholestasis, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Ventricular ... |
OMIM:614866 |
Dyskeratosis Congenita |
|
Carious teeth, Periodontitis, White hair, Premature graying of hair, Displacement of the urethral... |
ORPHA:1775 |
Alpha-Mannosidosis, Infantile Form |
|
Abnormality of the sphenoid sinus, Hepatosplenomegaly, Genu valgum, Pancytopenia, Short neck, Bil... |
ORPHA:309282 |
Farber Disease |
|
Hepatosplenomegaly, Abnormality of the knee, Abnormality of the elbow, Short toe, Ascites, Lympha... |
ORPHA:333 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia, Atrial septal defect |
OMIM:620211 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... |
ORPHA:158057 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Lower limb pain, Leukocytosis, Splenomegaly, Lymphadenopathy, Arth... |
OMIM:611762 |
Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Finger syndactyly, Cryptorchidism, Anal atresia, Ectopic kidney, Hy... |
ORPHA:887 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Delayed skeletal maturation, Wi... |
OMIM:613320 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Osteomalacia, Hepatosplenomegaly, Genu valgum, Enamel hypomineralization... |
OMIM:307800 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Cutaneous finger syn... |
OMIM:618419 |
Fryns Syndrome |
|
Thin ribs, Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Short neck, ... |
OMIM:229850 |
Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Accelerat... |
OMIM:190350 |
Aicardi Syndrome |
|
Precocious puberty, Small hand, Gastroesophageal reflux, Block vertebrae, Sparse lateral eyebrow,... |
ORPHA:50 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Pa... |
OMIM:620662 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pr... |
OMIM:613845 |
Cronkhite-Canada Syndrome |
|
Cataract, Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Furrowed to... |
ORPHA:2930 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia |
OMIM:118830 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi... |
ORPHA:1452 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Hypospadias, 11 pairs of ribs, Cryptorchidism, Ventricular septal ... |
ORPHA:77298 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure |
ORPHA:46532 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Reduced natural killer cell count, Radial bowing, Decreased circulating beta-2-m... |
OMIM:241600 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia |
OMIM:230350 |
Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foo... |
OMIM:601812 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... |
OMIM:614480 |
Marden-Walker Syndrome |
|
Joint contracture of the hand, Micrognathia, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipe... |
OMIM:248700 |
Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid... |
OMIM:619471 |
H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Histiocytosis, Alopecia, Delayed skeletal maturation, Decr... |
ORPHA:168569 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
Trisomy 13 |
|
Abnormality of the ureter, Cryptorchidism, Bilateral single transverse palmar creases, Displaceme... |
ORPHA:3378 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Colon cancer, Goiter, Chronic noninfectious lymphadenopathy, Nodu... |
ORPHA:319487 |
Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... |
ORPHA:3472 |
Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Highly arched eyebrow, Kyphosis, Retrognathia, Hypertrichosis, Long ey... |
OMIM:617190 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula, Hypoproteinemia |
OMIM:221400 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Intestinal malrotation, Micrognathia, Splenomegaly, Tibial bowing, Lower limb unde... |
ORPHA:3035 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepat... |
ORPHA:882 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Elevated circulating c... |
ORPHA:100083 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... |
ORPHA:79301 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Decreased urinary urate, Elevated urinary inosine level, Lymphopenia, Lymph node hy... |
OMIM:613179 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... |
OMIM:607616 |
Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal pericardium morphology, Abnormal lumbar spine morphology, A... |
ORPHA:2357 |
De Barsy Syndrome |
|
Sparse hair, Cataract, Congenital hip dislocation, Osteopenia, Delayed eruption of teeth, Delayed... |
ORPHA:2962 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:42 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cardiomyopathy, Cervical v... |
OMIM:606842 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Genu va... |
OMIM:615630 |
Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Hepatomegaly, Lym... |
ORPHA:858 |
Tangier Disease |
|
Decreased HDL cholesterol concentration, Splenomegaly, Nail dystrophy, Elevated circulating apoli... |
OMIM:205400 |
Apert Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Toe syndactyly, Broad thumb, Delayed eruption of teeth, F... |
ORPHA:87 |
Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Abnormal circulating cr... |
OMIM:620632 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Clitoral hypertrophy, Palmoplantar keratoderma, Decreased testicular size, External genital hypop... |
OMIM:610644 |
Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Alopecia of scalp, Corneal opacity |
ORPHA:1532 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... |
ORPHA:2204 |
Mucopolysaccharidosis, Type Iiia |
|
Coarse hair, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Thickened ribs, H... |
OMIM:252900 |
Myopathy With Extrapyramidal Signs |
|
Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk... |
OMIM:615673 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... |
OMIM:300972 |
Mucopolysaccharidosis-Plus Syndrome |
|
Low posterior hairline, Short neck, Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic sy... |
OMIM:617303 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circ... |
OMIM:300635 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormal spleen morphology, Abnormal pelv... |
ORPHA:464329 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Restrictive cardiomyopathy, Clinodactyly, Flexion contracture, Accessory oral frenulum,... |
ORPHA:88630 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Renal hypoplasia, Foot oligodactyly, Portal hypertension, Splenomegaly, Ventric... |
OMIM:616589 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Overlapping toe, Micrognathia, Narrow mouth, Cryptorchidism, Contracture of the distal... |
ORPHA:83617 |
Proteus-Like Syndrome |
|
Genu recurvatum, Cataract, Mandibular prognathia, Thymus hyperplasia, Abnormality of the parathyr... |
ORPHA:2969 |
Cinca Syndrome |
|
Joint dislocation, Abnormal joint morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Delayed c... |
ORPHA:1451 |
Scheie Syndrome |
|
Limitation of joint mobility, Joint stiffness, Splenomegaly, Mucopolysacchariduria, Everted lower... |
ORPHA:93474 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Broad thumb, Cholestasis, Hyperbilirubinemia, Dark urin... |
OMIM:619534 |
Systemic Sclerosis |
|
Chronic kidney disease, Intestinal bleeding, Finger swelling, Narrow mouth, Glomerulonephritis, A... |
ORPHA:90291 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Cryptorchidism, Ventricular septal defect, Arachnodactyly,... |
ORPHA:464306 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Scoliosis, Finger syndactyly, Long philtrum, Abnormal morphology of female internal genitalia, Ca... |
ORPHA:2311 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Flared metaphysis, Sandwich appearance of vertebral bodies, Pathologic fracture, O... |
OMIM:259700 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Pancytopenia, Hyperlipidemia,... |
ORPHA:79477 |
Porphyria, Congenital Erythropoietic |
|
Joint contracture of the hand, Red urine, Absent eyebrow, Increased fecal coproporphyrin 1, Hepat... |
OMIM:263700 |
Schimke Immunoosseous Dysplasia |
|
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Talipes equinovarus, Short neck, Neutropeni... |
OMIM:242900 |
Mogs-Cdg |
|
Alopecia, Retrognathia, Fair hair, External genital hypoplasia, Overlapping fingers, Hepatospleno... |
ORPHA:79330 |
Short Syndrome |
|
Abnormality of the dentition, Alopecia, Abnormal mandible morphology, Hypoplasia of the iris, Meg... |
ORPHA:3163 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Abnormal mitral ... |
ORPHA:217085 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Clitoral hypertrophy, Micrognathia, Cryptorchidism, Protruding tongue, Ventricular septal defect,... |
OMIM:214100 |
Elsahy-Waters Syndrome |
|
Megalocornea, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, H... |
OMIM:211380 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, La... |
ORPHA:363705 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Elevated ci... |
OMIM:614576 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Nodular goiter, Re... |
ORPHA:97290 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed skeletal maturation, Delayed ... |
ORPHA:90674 |
Chime Syndrome |
|
Acute leukemia, Ventricular septal defect, Short foot, Sparse hair, Hip dislocation, Aplasia/Hypo... |
ORPHA:3474 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Reduced haptoglobin level, Reticulocytosis, Tremor, Dystonia, Hemolytic anemia, Cho... |
OMIM:612126 |
Multiple Sulfatase Deficiency |
|
Broad thumb, Broad hallux, Splenomegaly, Hypoplastic vertebral bodies, Mucopolysacchariduria, Cor... |
OMIM:272200 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Retrognathia, Hypertrichosis, Muscular ventricular septal defect, Butt... |
OMIM:619227 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|