Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Multiple Myeloma |
|
Bone pain, Nephrotic syndrome, Splenomegaly, Osteopenia, Hyperproteinemia, Nephropathy, Pathologi... |
ORPHA:29073 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Hypertrichosis, Hepatomegaly, Cleft palate, Hepatic failure, Short neck, Ventricular... |
OMIM:235255 |
Temple Syndrome |
|
High palate, Joint hypermobility, Cleft palate, Flexion contracture, Small hand, Micrognathia, Sh... |
OMIM:616222 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Hypertrichosis, Hepatomegaly, Hepatic failure, Short neck, Ventricular septal defect... |
ORPHA:1655 |
Kbg Syndrome |
|
Cleft palate, Cutaneous syndactyly, Short neck, Macrodontia, Finger clinodactyly, Single transver... |
ORPHA:2332 |
Alpha-Mannosidosis |
|
Hepatomegaly, Short neck, Cataract, Bowing of the long bones, Mandibular prognathia, Delayed skel... |
ORPHA:61 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Hemivertebrae, Cutaneous finger sy... |
OMIM:113000 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Corneal opacity, Clinodactyly of the 5th finger... |
ORPHA:2370 |
Johanson-Blizzard Syndrome |
|
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Alopecia, Abnormality of t... |
ORPHA:2315 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... |
OMIM:619868 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Gingival overgrowth, Hirsutism, Corneal opacity, Generalized osteopo... |
OMIM:277950 |
Gaisböck Syndrome |
|
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Gout, Increased circulating r... |
ORPHA:90041 |
Aarskog-Scott Syndrome |
|
Cleft palate, Abnormality of the dentition, Megalocornea, Short neck, Delayed eruption of teeth, ... |
ORPHA:915 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Mucolipidosis Type Iii |
|
Joint stiffness, Corneal opacity, Large iliac wing, Cleft palate, Reduced bone mineral density, A... |
ORPHA:577 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Cleft palate, Micrognathia, Dextrocardia, Choreoathetosis, Supernu... |
OMIM:221950 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... |
OMIM:616828 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Esophageal carcinoma, Clinodactyly of the 5th toe |
ORPHA:99977 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Horseshoe kidney, Pericard... |
OMIM:235510 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Hypoproteinemia, Splenomegaly, Leukocytosis, Lymphadenitis, Elevated circulating cr... |
OMIM:615895 |
Verheij Syndrome |
|
Abnormal cardiac septum morphology, Hemivertebrae, Vertebral fusion, Short neck, Long philtrum, S... |
OMIM:615583 |
Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Abnormality of hair texture, Cleft palate, Abnormality of the... |
ORPHA:96169 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Clinodactyly of the 5th finger, Hypoproteinemia, Flexion contracture, Micrognathia, Single transv... |
OMIM:608093 |
Keratoconus Posticus Circumscriptus |
|
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation an... |
OMIM:244600 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Narrow mouth, Precocious puberty, Joint hypermobility, Cleft palate, Small hand, Mic... |
ORPHA:96184 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... |
ORPHA:90650 |
Mosaic Trisomy 9 |
|
High palate, Cleft palate, Abnormal liver lobulation, Hemivertebrae, Short neck, Micromelia, Fing... |
ORPHA:99776 |
Congenital Generalized Lipodystrophy |
|
Hypertrichosis, Low anterior hairline, Hepatomegaly, Precocious puberty in females, Macroglossia,... |
ORPHA:528 |
Hurler-Scheie Syndrome |
|
Spinal canal stenosis, Generalized hirsutism, Corneal opacity, Hepatomegaly, Limitation of joint ... |
ORPHA:93476 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Wide mouth, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short ... |
OMIM:268310 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Talipes equi... |
OMIM:618845 |
Refractory Celiac Disease |
|
Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proport... |
ORPHA:398063 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Gorlin Syndrome |
|
Arachnodactyly, Hypogonadotropic hypogonadism, Hemivertebrae, Vertebral fusion, Scoliosis, Palmar... |
ORPHA:377 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... |
OMIM:232700 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hypertriglyceridemia, Esophageal varix, H... |
ORPHA:75234 |
Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Anal atresia, Cervical C2/C3 vertebral fusion, Cleft palate, Abnormal vertebral seg... |
ORPHA:2345 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
High palate, Precocious puberty, Joint hypermobility, Small hand, Micrognathia, Short philtrum, S... |
ORPHA:254531 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Craniosynostosis, Ventricular septal defect, Rocker bottom foot, Double outlet righ... |
OMIM:301056 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Splenomegaly, Abnormal form of the vertebral bodies, Abnormality... |
ORPHA:1802 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Horseshoe kidne... |
ORPHA:3320 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Hepatosplenomegaly, Scoliosis, Hypertriglyceridemia, Elevated hepatic transaminas... |
OMIM:619013 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Hypodontia, Cleft palate,... |
ORPHA:2916 |
Sialidosis Type 2 |
|
Kyphosis, Corneal opacity, Hepatomegaly, Flexion contracture, Splenomegaly, Nephropathy, Osteopor... |
ORPHA:87876 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... |
OMIM:305620 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
High palate, Corner fracture of metaphysis, Abnormality of the dentition, Short neck, Platyspondy... |
ORPHA:93315 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Coarse hair, Short neck, Heparan sulfate excretion in urine, Platyspondyly, Anterio... |
OMIM:253220 |
Carpenter Syndrome 1 |
|
High palate, External genital hypoplasia, Aplasia/Hypoplasia of the middle phalanges of the toes,... |
OMIM:201000 |
Galloway-Mowat Syndrome 7 |
|
High palate, Cleft palate, Ventricular septal defect, Single transverse palmar crease, Proteinuri... |
OMIM:618348 |
Infantile Sialic Acid Storage Disease |
|
High palate, Metaphyseal irregularity, Gingival overgrowth, Nephrotic syndrome, Fair hair, Hepato... |
OMIM:269920 |
Alg6-Cdg |
|
Macroglossia, Shortening of all distal phalanges of the fingers, Scoliosis, Brachydactyly, Decrea... |
ORPHA:79320 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Hemivertebrae, Macrodontia, Mandibular prognathia, Spinal canal stenosis, Clinodac... |
OMIM:263540 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Macroglossia, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordo... |
OMIM:606612 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Cryptorchidism, Talipes equinovarus, Short neck, Long phi... |
OMIM:608104 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Lymphopenia, Prominent floating ribs, Intestinal lymphangiectasia, Neonatal hypopr... |
OMIM:152800 |
Omenn Syndrome |
|
Hepatomegaly, Hypoproteinemia, Splenomegaly, Alopecia, Hypoplasia of the thymus, Eosinophilia, Se... |
OMIM:603554 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Cleft palate, Ureteral obstruction, Cataract, Bowing of the l... |
ORPHA:90652 |
Nephrotic Syndrome, Type 11 |
|
High palate, Nephrotic syndrome, Cleft palate, Diffuse mesangial sclerosis, Arachnodactyly, Micro... |
OMIM:616730 |
Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Cleft palate, Short neck, Platyspondyly, Abnormal... |
ORPHA:485 |
Growth Hormone Insensitivity Syndrome |
|
Hypoplasia of penis, Everted lower lip vermilion, Delayed eruption of teeth, Fine hair, Hyperchol... |
ORPHA:181393 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Coarse hair, Short neck, Enlarged kidney, Long eyelashes, Proteinuria, Bone marrow ... |
OMIM:617303 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatocellular adenoma, Cholestasis, Esophageal varix, Polycystic ovaries, Portal f... |
ORPHA:370 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... |
ORPHA:247585 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Situs inversus to... |
OMIM:613686 |
Mucopolysaccharidosis Type 4 |
|
Wide mouth, Abnormality of the dentition, Short neck, Platyspondyly, Carious teeth, Genu valgum, ... |
ORPHA:582 |
Laron Syndrome |
|
Short toe, Tooth agenesis, Hypoplasia of penis, Micrognathia, Osteoarthritis, Brachydactyly, Dela... |
ORPHA:633 |
46,Xy Sex Reversal 4 |
|
High palate, Anal atresia, Sex reversal, Hypoplasia of the uterus, Increased blood urea nitrogen,... |
OMIM:154230 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Malar flattening, Abnormality of the dentition, Scoliosis, Brachyda... |
OMIM:182290 |
Gm1 Gangliosidosis |
|
Platyspondyly, Ventricular septal defect, Tremor, Abnormal epiphysis morphology, Mandibular progn... |
ORPHA:354 |
Smith-Magenis Syndrome |
|
Cleft palate, Abnormality of the ureter, Short philtrum, Microcornea, Tented upper lip vermilion,... |
ORPHA:819 |
Galactosialidosis |
|
Abnormal vertebral morphology, Corneal opacity, Abnormality of the vertebral column |
ORPHA:351 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... |
OMIM:209950 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Intestina... |
ORPHA:543 |
Alg1-Cdg |
|
Decreased liver function, Kyphosis, Nephrotic syndrome, Limitation of joint mobility, Abnormality... |
ORPHA:79327 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Cockayne Syndrome Type 1 |
|
Widely spaced primary teeth, Anodontia, Increased blood urea nitrogen, Hepatomegaly, Hypoplasia o... |
ORPHA:90321 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hy... |
OMIM:612526 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Gout, Osteoporosis, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610947 |
Mucopolysaccharidosis Type 1 |
|
Microdontia, Abnormality of the tonsils, Abnormal epiphysis morphology, Mucopolysacchariduria, Ab... |
ORPHA:579 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... |
OMIM:267700 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bone pain, Hepatomegaly, Splenomegaly, Intention tremor, Erlenmeyer flask deformity of the femurs... |
OMIM:610539 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Absent thu... |
OMIM:274000 |
Koolen-De Vries Syndrome |
|
High palate, Abnormality of hair texture, Slender finger, Cleft palate, Prominent fingertip pads,... |
OMIM:610443 |
Wolf-Hirschhorn Syndrome |
|
Cleft palate, Craniofacial asymmetry, Malrotation of small bowel, Short philtrum, Biliary tract a... |
OMIM:194190 |
Robinow Syndrome |
|
Tricuspid atresia, Triangular mouth, External genital hypoplasia, Broad alveolar ridges, Hemivert... |
ORPHA:97360 |
Basal Cell Nevus Syndrome |
|
Cleft palate, Hemivertebrae, Down-sloping shoulders, Cataract, Mandibular prognathia, Vertebral w... |
OMIM:109400 |
Hurler Syndrome |
|
Hepatomegaly, Calvarial hyperostosis, Short neck, Heparan sulfate excretion in urine, Microdontia... |
OMIM:607014 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... |
ORPHA:64743 |
Roifman Syndrome |
|
Irregular vertebral endplates, Hip contracture, Short toe, Clinodactyly of the 5th finger, Hepato... |
OMIM:616651 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... |
OMIM:277900 |
Lowry-Maclean Syndrome |
|
Cleft palate, Atrioventricular canal defect, Craniosynostosis, Osteopenia, Megalocornea, Pyloric ... |
ORPHA:2409 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Oligospermia, H... |
OMIM:615703 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Roifman Syndrome |
|
Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Hip contracture, Delayed proxima... |
ORPHA:353298 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Elevated circulating creatine kina... |
ORPHA:264580 |
Abcd Syndrome |
|
Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, Total intestinal a... |
OMIM:600501 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Spinal canal stenosis, Corneal opacity, Hypocalcemia, Hypoplasia of penis, Co... |
ORPHA:2323 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Malabsorption, Clinodactyly of the 5th finger, Lymphopenia, Abnormal hair quantity, Hypoproteinem... |
ORPHA:1116 |
Caudal Regression Syndrome |
|
Anal atresia, Joint stiffness, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal iliac ... |
ORPHA:3027 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, C1-C2 subluxation, Thin metacarpal cortices, Thin bony cor... |
OMIM:259600 |
Simpson-Golabi-Behmel Syndrome |
|
Wide mouth, Hepatomegaly, Hepatoblastoma, Cleft palate, Accelerated skeletal maturation, Short ne... |
ORPHA:373 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Macroglossia, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordo... |
OMIM:607155 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Small hand, Scoliosis, Syndactyly, Narrow palm, Clinodactyly, Thoracic ... |
ORPHA:1445 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Accelerated skeletal maturation, Cleft palate, Carious teeth, Genu valgum, Small epi... |
OMIM:618363 |
Mucopolysaccharidosis, Type Iva |
|
Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Anterior beaking of ... |
OMIM:253000 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Hypertrichosis, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Long eyel... |
OMIM:213980 |
Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Multiple pterygia, Joint dislocation, Hypoplastic heart, Thin ribs, Cleft palate... |
OMIM:312150 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity, Ulnar deviation of the hand, Metatarsal osteolysis, Wrist pain, Micrognathia, Os... |
OMIM:166300 |
Megalocornea-Intellectual Disability Syndrome |
|
High palate, Kyphosis, Everted lower lip vermilion, Abnormal anterior chamber morphology, Microgn... |
ORPHA:2479 |
Diaphanospondylodysostosis |
|
Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Multiple renal cysts, Absen... |
ORPHA:66637 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Adenocarcinoma Of The Esophagus |
|
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Clinodactyly of the 5th toe, Ly... |
ORPHA:99976 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Intestinal obstruction, Thr... |
OMIM:226300 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyl... |
ORPHA:2741 |
Leptospirosis |
|
Hepatomegaly, Hyperproteinemia, Conjunctival hyperemia, Thrombocytopenia, Hepatitis, Acute kidney... |
ORPHA:509 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Narrow palate, Gastroesophageal reflux, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndac... |
ORPHA:313892 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Alopecia, Increased proporti... |
OMIM:615559 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Median cleft palate, Hepatomegaly, Microcornea |
ORPHA:2432 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Hypoammonemia, Abnormality of the dentition, Platyspondyly, Hematuria, Delayed eruptio... |
ORPHA:534 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... |
OMIM:613490 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Hemophagocytosis, Sp... |
OMIM:603553 |
Galloway-Mowat Syndrome 6 |
|
High palate, Wide mouth, Nephrotic syndrome, Clinodactyly of the 5th finger, Decreased response t... |
OMIM:618347 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... |
OMIM:306000 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Abnormal hair quantity, Cryptorchidism, Open bite, Reduc... |
ORPHA:2617 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Down-slopin... |
OMIM:265000 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Platyspondyly, Short neck, Micromelia, Metaphyseal irregularity, Narrow greater sci... |
OMIM:602557 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Alopecia, Splenom... |
OMIM:235200 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal reticulocyte morphology, Abnormal hip bone morphology, Hypospadias, Abnormalit... |
ORPHA:2522 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Peritoneal effusion, Lymphopenia, Hypoproteinemia, Anemia, Decrease... |
ORPHA:90362 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Short clavicles, Small hand, Short neck, Tapered finger, Renovascular hype... |
ORPHA:401923 |
Mucopolysaccharidosis, Type Ivb |
|
Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Platyspondyly, Cario... |
OMIM:253010 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Periostitis, Joint swelling, Osteomyelitis, Elevated circulating C-reactive protein concentration... |
OMIM:612852 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Cleft palate, Broad alveolar ridges, Micromelia, Pyloric stenosis, Ventricular sept... |
OMIM:270400 |
Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Hypoplastic heart, Thin ribs, Cleft palate, Flexion contrac... |
OMIM:253290 |
Galactokinase Deficiency |
|
Increased level of galactitol in urine, Hepatomegaly, Nuclear cataract, Hypergonadotropic hypogon... |
ORPHA:79237 |
Frontometaphyseal Dysplasia |
|
Cleft palate, Craniosynostosis, Limitation of movement at ankles, Ureteral obstruction, Limitatio... |
ORPHA:1826 |
Kbg Syndrome |
|
Cutaneous syndactyly, Short neck, Macrodontia, Single transverse palmar crease, Tented upper lip ... |
OMIM:148050 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Cleft palate, Single transverse palmar crease, Clitoral hypertrophy, Cataract, Brus... |
OMIM:214110 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
High palate, Avascular necrosis, Hypertrichosis, Elevated circulating C-reactive protein concentr... |
OMIM:619750 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... |
ORPHA:2494 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Short neck, Platyspondyly, Abnormal proportion of naive CD4 T cells, Microdontia, A... |
ORPHA:1830 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Proteinuria, Pericarditis, Stage 5 chronic kidney disease, Scoliosis, Elevated hepa... |
OMIM:619487 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Gastroesophageal reflux, Hypoproteinemia, Diffuse ... |
OMIM:256300 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia, Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Corneal opacity, Increased intervertebral space, Short ribs, Metaphy... |
OMIM:618961 |
Mucolipidosis Ii Alpha/Beta |
|
Wide mouth, Hepatomegaly, Sparse hair, Sparse eyebrow, Craniosynostosis, Osteopenia, Megalocornea... |
OMIM:252500 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Delayed eruption of teeth, Carious teeth, Genu valgum, Broad ribs, Ovoid vertebral ... |
OMIM:253200 |
Sialidosis Type 1 |
|
Kyphosis, Corneal opacity, Aminoaciduria, Splenomegaly, Urinary excretion of sialylated oligosacc... |
ORPHA:812 |
Leishmaniasis |
|
Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Leukopenia, Abnormal macrophage morp... |
ORPHA:507 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... |
ORPHA:2501 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Hurler Syndrome |
|
Hepatomegaly, Short neck, Abnormality of the tonsils, Abnormal epiphysis morphology, Mucopolysacc... |
ORPHA:93473 |
Acro-Renal-Ocular Syndrome |
|
Radial club hand, Microcornea, Hypoplasia of the ulna, Horseshoe kidney, Cataract, Sandal gap, Ve... |
ORPHA:959 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... |
ORPHA:70482 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... |
OMIM:271630 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Oral ulcer, Lymphadenopathy |
OMIM:608971 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hypocalcemia, Hepatomegaly, Alopecia, Splenomegaly, Abnormality of the small intes... |
ORPHA:100025 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Short neck, Platyspondyly, Ventricular septal defect, Cardiomegaly, Fle... |
OMIM:616897 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
Spondylocarpotarsal Synostosis Syndrome |
|
Cleft palate, Scapular winging, Short neck, Cataract, Block vertebrae, Delayed skeletal maturatio... |
OMIM:272460 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Sinusitis, Epiphyseal dysplasia, Joint stiffness, Macroglossia, Splenomegaly, Short nec... |
ORPHA:583 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Osteopenia, Tremor, Proteinuria, Proxi... |
OMIM:212065 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Neutropenia, Hepatomegaly... |
ORPHA:158061 |
Axial Mesodermal Dysplasia Spectrum |
|
Tracheoesophageal fistula, Abnormality of the ureter, Short neck, Anorectal anomaly, Vertebral se... |
ORPHA:1834 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis |
ORPHA:60026 |
Myhre Syndrome |
|
Sparse hair, Cleft palate, Short philtrum, Short neck, Platyspondyly, Cone-shaped epiphysis, Vent... |
OMIM:139210 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Abnormality ... |
ORPHA:536471 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... |
OMIM:603552 |
Mosaic Trisomy 20 |
|
Spinal canal stenosis, Abnormal mitral valve morphology, Vertebral segmentation defect, Kyphosis,... |
ORPHA:1724 |
Alg12-Cdg |
|
Muscular ventricular septal defect, Short philtrum, B lymphocytopenia, Sandal gap, Short long bon... |
ORPHA:79324 |
Trichohepatoenteric Syndrome 1 |
|
Wide mouth, Hepatomegaly, Sparse hair, Hepatic failure, Cholestasis, Abnormality of the pancreas,... |
OMIM:222470 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... |
OMIM:619991 |
Lateral Meningocele Syndrome |
|
High palate, Kyphosis, Bicuspid aortic valve, Sclerosis of skull base, Malar flattening, Microgna... |
OMIM:130720 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated... |
ORPHA:79240 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Periosteal thickening of long tubular bones, Proximal phalangeal periosteal ... |
OMIM:161700 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Hirsutism, Hepatomegaly, Splenomegaly, Coarse hair, Heparan sulf... |
OMIM:252920 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Hepatomegaly, Flexion contracture, Hepatic failure, Cirrhosis, Hepatosp... |
ORPHA:367 |
Cantu Syndrome |
|
Short neck, Platyspondyly, Hypoplastic ischiopubic rami, Broad hallux, Long eyelashes, Ovoid vert... |
OMIM:239850 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Cleft palate, Single transverse palmar crease, Clitoral hypertrophy, Cataract, Brus... |
OMIM:614866 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Torticollis, Narrow palate, Thoracic scoliosis, Talipes equinovarus, Adducted thumb,... |
OMIM:617022 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Hepatomegaly, Alopecia, Osteopenia, Down-sloping shoulders, Acroosteolysis of distal... |
OMIM:248370 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Alagille Syndrome 1 |
|
Exocrine pancreatic insufficiency, Band keratopathy, Hepatic failure, Hemivertebrae, Reduced numb... |
OMIM:118450 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... |
ORPHA:465508 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Talipes equinovarus, Cleft palate, Fused thoracic vertebrae, Flexion contracture, Short neck, Sco... |
OMIM:618469 |
Zellweger Syndrome |
|
High palate, Malabsorption, Abnormality of the tongue, Hepatomegaly, Corneal opacity, Hepatic fai... |
ORPHA:912 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Hypercholesterolemia |
OMIM:301033 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosi... |
OMIM:308240 |
Progressive Familial Intrahepatic Cholestasis |
|
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cholestasi... |
ORPHA:172 |
Spondylometaphyseal Dysplasia, Axial |
|
Coxa vara, Narrow greater sciatic notch, Splenomegaly, Platyspondyly, Anterior rib cupping, Scoli... |
OMIM:602271 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... |
OMIM:613101 |
Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Cirrhosis, Hepatosplenomegaly, Elevated hepati... |
ORPHA:263501 |
Hurler-Scheie Syndrome |
|
Kyphosis, Hirsutism, Corneal opacity, Hepatomegaly, Hand pain, Joint stiffness, Splenomegaly, Mic... |
OMIM:607015 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Hepatomegaly, Osteopenia, Gout, Hepatocellular adenoma, Enlarged kidney, Carious te... |
ORPHA:79259 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Decreased response to growth hormone stimulation test, Absent thumb, Hypopl... |
OMIM:609053 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:251880 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Villous atrophy, Renal cyst, Protein-losin... |
OMIM:602579 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Brachydactyly, Finger symphalangism, Proximal symphalangi... |
OMIM:610017 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Atrial septal defect, Micropenis, Wormian bones, Hypogonadotropic hypogonadism, ... |
OMIM:617159 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypertrichosis, Exocrine pancreatic insufficiency, Broad phalanx, Atrioventricular canal defect, ... |
ORPHA:508498 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Flexion contracture, Micropenis, Hypospadias, Dilated cardiomyopathy, Developmen... |
OMIM:618815 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... |
OMIM:178110 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Cataract, Abnormal circulating arginine concentrat... |
ORPHA:247598 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Intrinsic hand muscle atrophy, Weakness of th... |
ORPHA:488650 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Sclerosing cholangitis, Elevated circulating... |
OMIM:619662 |
Apert Syndrome |
|
Cleft palate, Craniosynostosis, Cutaneous syndactyly, Delayed eruption of teeth, Rhizomelic arm s... |
OMIM:101200 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent gastroenteritis, Hypertrichosis, Short neck, Heparan sulfate excretion in urine, Enlarg... |
ORPHA:505248 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal paranasal sinus morphology, Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia |
OMIM:207731 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Abnormal intestine morphology, Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Mucopolysaccharidosis Type 7 |
|
Joint stiffness, Corneal opacity, Splenomegaly, Abnormal hip bone morphology, Anterior beaking of... |
ORPHA:584 |
Mulibrey Nanism |
|
Myocardial fibrosis, Dental malocclusion, Hepatomegaly, Hypodontia, Thickened cortex of long bone... |
OMIM:253250 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hepatomegaly, Abnormality of the dentition, Coarse hair, Hepara... |
ORPHA:581 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Steat... |
ORPHA:470 |
Proteus Syndrome |
|
Spinal canal stenosis, Kyphoscoliosis, Lymphangioma, Splenomegaly, Calvarial hyperostosis, Limbal... |
OMIM:176920 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Cleft palate, Unilateral renal agenesis, Abnormal vertebral segm... |
OMIM:118100 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Decreased liver function, Colitis, Hepatomegaly, Ch... |
ORPHA:540 |
Duane Retraction Syndrome |
|
Cleft palate, Hypoplasia of the radius, Short neck, Microcornea, Anorectal anomaly, Hypoplastic i... |
ORPHA:233 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased glomerular filtration rate, Elevated circulating creatinine concentration... |
ORPHA:85450 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Anal atresia, Abnormal sacrum morphology, Scoliosis, Brachydactyly, Fused cervical vertebrae, Sho... |
ORPHA:1436 |
Juvenile Sialidosis Type 2 |
|
Gingival overgrowth, Corneal opacity, Hepatomegaly, Hepatosplenomegaly, Abnormal form of the vert... |
ORPHA:93399 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
High palate, Osteopenia, Short neck, Hammertoe, Cervical C2/C3 vertebral fusion, Knee dislocation... |
OMIM:618000 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Horses... |
OMIM:607323 |
Oculoskeletodental Syndrome |
|
Low anterior hairline, Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Oligodontia, Scoli... |
OMIM:618440 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Anemia, Ele... |
ORPHA:231111 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Fucosidosis |
|
Glycopeptiduria, Tortuosity of conjunctival vessels, Lumbar hyperlordosis, Thick eyebrow, Hepatom... |
OMIM:230000 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Anemia, Stage 5... |
OMIM:603278 |
Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Alopecia, Ectopic ossification in tendon tissue, Short 1st metaca... |
OMIM:135100 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Anal atresia, Rib fusion, Urethral atresia, Absent external genitalia, Thin ribs, Short ribs, Sup... |
OMIM:271520 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Scoliosis, Tremor, Hypoalbuminemia, Hyperchol... |
OMIM:208920 |
Chops Syndrome |
|
Anomalous pulmonary venous return, Coarse hair, Ventricular septal defect, Long eyelashes, Horses... |
OMIM:616368 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Congenital Rubella Syndrome |
|
Corneal opacity, Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Apl... |
ORPHA:290 |
Megalocornea-Mental Retardation Syndrome |
|
High palate, Low anterior hairline, Genu recurvatum, Arachnodactyly, Micrognathia, Osteopenia, Me... |
OMIM:249310 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Congenital... |
OMIM:306955 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Fryns Syndrome |
|
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Short neck, Tented upp... |
ORPHA:2059 |
Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Alopecia, Abnormality of the dentition, Ventricular septal de... |
ORPHA:2092 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... |
OMIM:617156 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Cholestasis-Lymphedema Syndrome |
|
Bone pain, Hyperlipidemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cirrhosis, A... |
ORPHA:1414 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Ovoid vertebral bodie... |
ORPHA:85167 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ... |
ORPHA:251004 |
Microphthalmia, Syndromic 3 |
|
Rib fusion, Butterfly vertebrae, Micropenis, Hypospadias, Hypogonadotropic hypogonadism, Hemivert... |
OMIM:206900 |
Smith-Lemli-Opitz Syndrome |
|
Wide mouth, Cleft palate, Atrioventricular canal defect, Short neck, Advanced eruption of teeth, ... |
ORPHA:818 |
Larsen Syndrome |
|
Cleft palate, Short nail, Ventricular septal defect, Elbow dislocation, Cleft upper lip, Talipes ... |
OMIM:150250 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Atrial septal defect, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Elevated circu... |
ORPHA:26793 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Low back pain, M... |
OMIM:122600 |
Tbck-Related Intellectual Disability Syndrome |
|
Short neck, 11 pairs of ribs, Broad finger, Ventricular septal defect, Tented upper lip vermilion... |
ORPHA:488632 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Tapered... |
OMIM:608836 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Elevated ... |
OMIM:618805 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Cantú Syndrome |
|
Wide mouth, Accelerated skeletal maturation, Short neck, Platyspondyly, Long eyelashes, Broad rib... |
ORPHA:1517 |
Mosaic Trisomy 8 |
|
High palate, Vertebral segmentation defect, Corneal opacity, Clinodactyly of the 5th finger, Clef... |
ORPHA:96061 |
Williams Syndrome |
|
Cholelithiasis, Wide mouth, Abnormality of the ankles, Radioulnar synostosis, Tremor, Genu valgum... |
ORPHA:904 |
Harel-Yoon Syndrome |
|
Corneal opacity, Micrognathia, Scoliosis, Developmental cataract, Mandibular prognathia, Hypertro... |
OMIM:617183 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Hypergonadotropic hypogona... |
OMIM:602782 |
Dengue Fever |
|
Hepatomegaly, Hypoproteinemia, Leukopenia, Gingival bleeding, Gastrointestinal hemorrhage, Thromb... |
ORPHA:99828 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Osteopor... |
ORPHA:100024 |
Lathosterolosis |
|
High palate, Anisopoikilocytosis, Schistocytosis, Horseshoe kidney, Cataract, Talipes equinovarus... |
OMIM:607330 |
Wilson Disease |
|
Bone pain, Joint swelling, Hepatomegaly, Acute hepatitis, Back pain, Splenomegaly, Acute hepatic ... |
ORPHA:905 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Accelerated skeletal maturation, Cleft palate, Craniosynostosis, Osteopenia, Metacarpophalangeal ... |
OMIM:245600 |
Erythrokeratodermia Variabilis |
|
Generalized hirsutism, Corneal opacity, Alopecia, Brachydactyly, Tapered finger, Patchy palmoplan... |
ORPHA:317 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
High palate, Cervical C2/C3 vertebral fusion, Flexion contracture, Everted lower lip vermilion, M... |
OMIM:616549 |
Infantile Liver Failure Syndrome 3 |
|
Abnormality of the epiphysis of the femoral head, Beaking of vertebral bodies, Hypoplastic verteb... |
OMIM:618641 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Recurrent fractures, Hypophosphatemic rickets, Precocious puberty, Corneal opacity, Kyphoscoliosi... |
OMIM:163200 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, Hepatomegaly, High, narrow palate, Splenomegaly, Small hand, Micrognat... |
OMIM:608799 |
Abetalipoproteinemia |
|
Corneal ulceration, Hepatomegaly, Steatorrhea, Osteopenia, Fat malabsorption, Reticulocytosis, Ca... |
ORPHA:14 |
Lowe Oculocerebrorenal Syndrome |
|
Platyspondyly, Genu valgum, Proteinuria, Scoliosis, Osteomalacia, Wrist swelling, Joint hypermobi... |
OMIM:309000 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
High palate, Wide mouth, Dental malocclusion, Narrow palate, Clinodactyly of the 5th finger, Vert... |
OMIM:227330 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Broad metacarpals, Joint stiffness, Interphalangeal joint contra... |
OMIM:151200 |
Distal Trisomy 18Q |
|
High palate, Clinodactyly of the 5th finger, Hypoplasia of penis, Arachnodactyly, Micrognathia, P... |
ORPHA:1716 |
Sitosterolemia 1 |
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Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Arthritis, Chronic hemolytic ane... |
OMIM:210250 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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High palate, Osteopenia, Thin metacarpal cortices, Abnormality of the thymus, Delayed skeletal ma... |
ORPHA:2463 |
Mucolipidosis Iii Gamma |
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Kyphosis, Joint stiffness, Aortic valve stenosis, Flat capital femoral epiphysis, Flared iliac wi... |
OMIM:252605 |
Osteogenesis Imperfecta |
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Abnormality of femur morphology, Abnormality of the dentition, Femoral bowing, Osteopenia, Biconc... |
ORPHA:666 |
Zimmermann-Laband Syndrome |
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High palate, Wide mouth, Hepatomegaly, Cleft palate, Abnormal external genitalia, Short neck, Fac... |
ORPHA:3473 |
Atelosteogenesis, Type I |
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Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing,... |
OMIM:108720 |
Hemochromatosis, Type 2A |
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Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotr... |
OMIM:602390 |
Gm1 Gangliosidosis Type 1 |
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Broad metacarpals, Flattened femoral head, Hirsutism, Gingival overgrowth, Hypoplastic vertebral ... |
ORPHA:79255 |
Interstitial Nephritis, Karyomegalic |
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Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... |
OMIM:614817 |
Pyle Disease |
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Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
Mandibuloacral Dysplasia |
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High palate, Dental crowding, Short clavicles, Sparse hair, Alopecia, Micrognathia, Delayed crani... |
ORPHA:2457 |
H Syndrome |
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Hypertrichosis, Alopecia, Enlarged kidney, Osteolysis, Hypogonadism, Delayed skeletal maturation,... |
ORPHA:168569 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Scleroderma |
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Keratitis, Alopecia, Myocarditis, Osteolytic defects of the phalanges of the hand, Pericarditis, ... |
ORPHA:801 |
Galloway-Mowat Syndrome 8 |
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Nephrotic syndrome, Hematuria, Focal segmental glomerulosclerosis, Enamel hypoplasia, Proteinuria... |
OMIM:618349 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Cervical C2/C3 vertebral fusion, Cleft upper lip, Cleft palate, Short neck, Scoliosis, Ventricula... |
OMIM:214300 |
Hereditary Bullous Dystrophy, Macular Type |
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Congenital abnormal hair pattern, Atrichia, Corneal opacity, External genital hypoplasia, Alopeci... |
ORPHA:1867 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Corneal ulceration, Gastroesophageal reflux, Increased blood urea nitrogen, Abnormal renal physio... |
OMIM:223900 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Narrow mouth, Gastroesophageal reflux, Flexion contracture, Anemia, Abnormal circulating selenium... |
ORPHA:89842 |
Griscelli Syndrome |
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Abnormal eyebrow morphology, Hepatomegaly, Abnormal circulating lipid concentration, Splenomegaly... |
ORPHA:381 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Gaucher Disease |
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Elevated circulating C-reactive protein concentration, Hepatomegaly, Osteopenia, Hematuria, Abnor... |
ORPHA:355 |
Carpenter Syndrome |
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Preaxial foot polydactyly, Abnormal cornea morphology, Kyphoscoliosis, Talipes equinovarus, Exter... |
ORPHA:65759 |
Syndromic Recessive X-Linked Ichthyosis |
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Corneal opacity, Abnormal stomach morphology, Unilateral renal agenesis, Testicular seminoma, Ren... |
ORPHA:281090 |
Nephrotic Syndrome, Type 2 |
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Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... |
OMIM:600995 |
Wolf-Hirschhorn Syndrome |
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Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Megalocornea, Delayed skeletal ... |
ORPHA:280 |
Mental Retardation, Buenos Aires Type |
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High palate, Wide mouth, Dental malocclusion, Clinodactyly of the 5th finger, Fair hair, Atrial s... |
OMIM:249630 |
Mucopolysaccharidosis, Type Iiic |
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Thickened ribs, Beaking of vertebral bodies, Hirsutism, Hypertrichosis, Hepatomegaly, Kyphoscolio... |
OMIM:252930 |
Reticuloendotheliosis, X-Linked |
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Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Juberg-Hayward Syndrome |
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Abnormal eyebrow morphology, Abnormality of finger, Hypoplasia of the radius, Hypospadias, Scolio... |
ORPHA:2319 |
Kerion Celsi |
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Lymphadenopathy, Alopecia |
ORPHA:499 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, El... |
ORPHA:79301 |
Igg4-Related Retroperitoneal Fibrosis |
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Hydrocele testis, Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Mesomelic arm short... |
OMIM:171480 |
Fish-Eye Disease |
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Corneal opacity, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenop... |
ORPHA:79292 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Congenital Disorder Of Glycosylation, Type Ik |
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Hepatomegaly, Flexion contracture, Splenomegaly, Thin vermilion border, Micrognathia, Hypogonadis... |
OMIM:608540 |
Morgagni-Stewart-Morel Syndrome |
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Hirsutism, Action tremor, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuric... |
ORPHA:77296 |
Cronkhite-Canada Syndrome |
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Malabsorption, Hepatomegaly, Patchy alopecia, Alopecia, Sparse body hair, Aplasia/Hypoplasia of t... |
ORPHA:2930 |
Morquio Syndrome C |
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Corneal opacity, Platyspondyly |
OMIM:252300 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Aredyld Syndrome |
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Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Sparse body hair, Aplasia/Hy... |
ORPHA:1133 |
Microgastria-Limb Reduction Defect Syndrome |
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Hiatus hernia, Hepatomegaly, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kid... |
ORPHA:2538 |
Wolcott-Rallison Syndrome |
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Double outlet right ventricle, Exocrine pancreatic insufficiency, Chronic kidney disease, Atrial ... |
ORPHA:1667 |
8Q21.11 Microdeletion Syndrome |
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High palate, Narrow mouth, Corneal opacity, Hypoplasia of penis, Finger syndactyly, Abnormality o... |
ORPHA:284160 |
Bartsocas-Papas Syndrome |
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Narrow mouth, Corneal opacity, Cleft palate, Absent thumb, Aplasia/Hypoplasia of the eyebrow, Mic... |
ORPHA:1234 |
Orthostatic Hypotension 1 |
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High palate, Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concent... |
OMIM:223360 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
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Corneal opacity, Micrognathia, Scoliosis, 3-Methylglutaconic aciduria, Cataract, Mandibular progn... |
ORPHA:496790 |
Hardikar Syndrome |
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Hepatomegaly, Hepatic failure, Cholestasis, Bladder exstrophy, Ventricular septal defect, Esophag... |
OMIM:301068 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Recurrent gastroenteritis, Gastritis, Alopecia, Decreased prealbumin level, Malabsorption, Coliti... |
ORPHA:37042 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
Mucous Membrane Pemphigoid |
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Gingivitis, Oral mucosal blisters, Corneal opacity |
ORPHA:46486 |
Laryngeal Neuroendocrine Tumor |
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Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... |
ORPHA:100083 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
Familial Cold Autoinflammatory Syndrome 2 |
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Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lower limb pai... |
OMIM:611762 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Combined Oxidative Phosphorylation Deficiency 33 |
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Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... |
OMIM:617713 |
Mosaic Trisomy 1 |
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Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Ventricular septal defect, ... |
ORPHA:1692 |
Pfapa Syndrome |
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Malabsorption, Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Arthritis, Lymphadeno... |
ORPHA:42642 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Anal atresia, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx ... |
OMIM:309620 |
Neuraminidase Deficiency |
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Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... |
OMIM:256550 |
Hypertriglyceridemia, Transient Infantile |
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Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... |
OMIM:614480 |
48,Xxyy Syndrome |
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Cleft palate, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Carious teeth, Radioulna... |
ORPHA:10 |
Pycnodysostosis |
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High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
Hajdu-Cheney Syndrome |
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Hepatomegaly, Cleft palate, Abnormality of the dentition, Coarse hair, Short neck, Biconcave vert... |
ORPHA:955 |
Deafness, X-Linked 2 |
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Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Cholestasis-Lymphedema Syndrome |
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Malabsorption, Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transamina... |
OMIM:214900 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Increased circulating ferritin concentration, Hepatomegaly, Atrioventricular canal defect, Osteop... |
OMIM:619534 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
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Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Aicardi Syndrome |
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Cleft upper lip, Rib fusion, Malabsorption, Bifid ribs, Hiatus hernia, Hepatoblastoma, Cleft pala... |
ORPHA:50 |
Multiple Sulfatase Deficiency |
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Joint stiffness, Corneal opacity, Thick eyebrow, Hepatomegaly, Splenomegaly, Coarse hair, Broad h... |
ORPHA:585 |
Osteoporosis-Pseudoglioma Syndrome |
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Abnormal femoral neck/head morphology, Corneal opacity, Metaphyseal widening, Osteopenia, Isosexu... |
ORPHA:2788 |
Al Amyloidosis |
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Hepatomegaly, Proteinuria, Gastrointestinal hemorrhage, Albuminuria, Howell-Jolly bodies, Abnorma... |
ORPHA:85443 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
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Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Increased blood urea nitrogen, Abnormal renal physiology, Schistocytosis, Microscopic hematuria, ... |
OMIM:274150 |
Distal Monosomy 6P |
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Abnormality of the dentition, Short philtrum, Abnormal epiphysis morphology, Vertebral segmentati... |
ORPHA:96125 |
Frontometaphyseal Dysplasia 2 |
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High palate, Cleft palate, Short philtrum, Congenital hip dislocation, Finger clinodactyly, Pylor... |
OMIM:617137 |
Primary Sclerosing Cholangitis |
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Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Osteopenia, Cholestasis, Chronic ... |
ORPHA:171 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:615234 |
Corneal Dystrophy, Endothelial, X-Linked |
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Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
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Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Abnormality of the p... |
ORPHA:887 |
Dyskeratosis Congenita |
|
Hepatomegaly, Sparse hair, Alopecia, Hepatic failure, Tracheoesophageal fistula, Abnormality of t... |
ORPHA:1775 |
Systemic Sclerosis |
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Alopecia, Myocarditis, Osteolytic defects of the phalanges of the hand, Proteinuria, Pericarditis... |
ORPHA:90291 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Bardet-Biedl Syndrome 20 |
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2-3 toe syndactyly, Pancreatitis, Atrial septal defect, Micropenis, Postaxial polydactyly, Astigm... |
OMIM:619471 |
Farber Disease |
|
Hepatic failure, Lymphadenopathy, Joint swelling, Flexion contracture, Abnormality of the hand, A... |
ORPHA:333 |
Cornelia De Lange Syndrome 1 |
|
High palate, Malrotation of colon, Hiatus hernia, Short sternum, Cleft palate, Hypoplasia of the ... |
OMIM:122470 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Elevated circulating creatine ... |
ORPHA:64753 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Narrow mouth, Hypoplasia of penis, Splenomegaly, Thin vermilion border, Hypospadias, Abnormality ... |
ORPHA:1046 |
Alpha-Mannosidosis, Infantile Form |
|
Recurrent gastroenteritis, Craniosynostosis, Osteopenia, Short neck, Platyspondyly, Genu valgum, ... |
ORPHA:309282 |
Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures, Hepatomegaly, Aminoaciduria, Splenomegaly, Abnormal metaphysis morphology |
ORPHA:417 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice |
OMIM:230350 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Sparse eyebrow, Clitoral hypoplasia, Pyloric stenosis, Single transverse palmar crease, Bifid dis... |
OMIM:618419 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Absent thumb, Hypoplasia of the radius, Biliary tract abnormality, Hyp... |
OMIM:156810 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Coxa vara, Hypocalcemia, Hepatomegaly, Increased bone mi... |
OMIM:259700 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
High palate, Cervical C2/C3 vertebral fusion, Low anterior hairline, Lumbar hyperlordosis, Crypto... |
OMIM:617796 |
Cinca Syndrome |
|
Abnormal joint morphology, Elevated circulating C-reactive protein concentration, Hepatomegaly, L... |
ORPHA:1451 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Proteinuria, Ac... |
ORPHA:54370 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hypertrichosis, Hepatomegaly, Short neck, Jaundice, Abnormal heart morphology, Splenomegaly, Retr... |
OMIM:608779 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Reticulocytos... |
OMIM:612126 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Macroglossia, Delayed proximal femoral epiphyseal os... |
ORPHA:90674 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... |
OMIM:617575 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Bone pain, Recurrent fractures, Abnormality of the lymph nodes, Chronic noninfectious lymphadenop... |
ORPHA:319487 |
Trisomy 13 |
|
Cleft palate, Abnormality of the dentition, Abnormality of the ureter, Ventricular septal defect,... |
ORPHA:3378 |
Marden-Walker Syndrome |
|
High palate, Cleft palate, Short neck, Radioulnar synostosis, Pyloric stenosis, Talipes equinovar... |
OMIM:248700 |
Juvenile Polyposis Of Infancy |
|
Melena, Freckled genitalia, Hematochezia, Rectal prolapse, Gastrointestinal hemorrhage, Abnormal ... |
ORPHA:79076 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Hematuria, Focal segmental glomerulosclerosis, Hypoal... |
OMIM:614131 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... |
OMIM:615573 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Tracheoesophageal fistula, Hypospadias, Hemivertebrae, 11 pairs of ribs, Ven... |
ORPHA:77298 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Prolonged neonatal jaundice, Joint hypermobility... |
OMIM:300972 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Fatigable weakness of neck muscles, Hepatomegaly, Hyperammonemia, Eleva... |
ORPHA:42 |
Galloway-Mowat Syndrome 1 |
|
High palate, Wide mouth, Nephrotic syndrome, Hiatus hernia, Slender finger, Diffuse mesangial scl... |
OMIM:251300 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Hemophagocytosis, Splenomega... |
OMIM:300635 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Retrognat... |
OMIM:614576 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular car... |
ORPHA:882 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Scheie Syndrome |
|
Corneal opacity, Aortic valve stenosis, Spondylolisthesis, Short neck, Genu valgum, Mandibular pr... |
OMIM:607016 |
Trypsinogen Deficiency |
|
Anal atresia, Hypoproteinemia |
OMIM:614044 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Anterior beaking of lumbar vertebrae, Platyspondyly, Opacification o... |
OMIM:230650 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Coarse hair, Short neck, Platyspondyly, Microdontia, Hypoplasia of the capital femora... |
OMIM:242900 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Nephron... |
OMIM:615630 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hyperlysinemia, Hypervalinemia, Hepatomegaly, Leukocytosis, S... |
OMIM:615673 |
Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... |
ORPHA:1452 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... |
ORPHA:567548 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract, Splenomegaly |
OMIM:619813 |
Gaucher Disease Type 1 |
|